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NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Sep 1, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000579949.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)]

NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
HGVS:
  • NC_000017.11:g.43067663GTG[1]
  • NG_005905.2:g.150316CAC[1]
  • NM_001407571.1:c.4801_4803CAC[1]
  • NM_001407581.1:c.5080_5082CAC[1]
  • NM_001407582.1:c.5080_5082CAC[1]
  • NM_001407583.1:c.5077_5079CAC[1]
  • NM_001407585.1:c.5077_5079CAC[1]
  • NM_001407587.1:c.5077_5079CAC[1]
  • NM_001407590.1:c.5074_5076CAC[1]
  • NM_001407591.1:c.5074_5076CAC[1]
  • NM_001407593.1:c.5014_5016CAC[1]
  • NM_001407594.1:c.5014_5016CAC[1]
  • NM_001407596.1:c.5014_5016CAC[1]
  • NM_001407597.1:c.5014_5016CAC[1]
  • NM_001407598.1:c.5014_5016CAC[1]
  • NM_001407602.1:c.5014_5016CAC[1]
  • NM_001407603.1:c.5014_5016CAC[1]
  • NM_001407605.1:c.5014_5016CAC[1]
  • NM_001407610.1:c.5011_5013CAC[1]
  • NM_001407611.1:c.5011_5013CAC[1]
  • NM_001407612.1:c.5011_5013CAC[1]
  • NM_001407613.1:c.5011_5013CAC[1]
  • NM_001407614.1:c.5011_5013CAC[1]
  • NM_001407615.1:c.5011_5013CAC[1]
  • NM_001407616.1:c.5011_5013CAC[1]
  • NM_001407617.1:c.5011_5013CAC[1]
  • NM_001407618.1:c.5011_5013CAC[1]
  • NM_001407619.1:c.5011_5013CAC[1]
  • NM_001407620.1:c.5011_5013CAC[1]
  • NM_001407621.1:c.5011_5013CAC[1]
  • NM_001407622.1:c.5011_5013CAC[1]
  • NM_001407623.1:c.5011_5013CAC[1]
  • NM_001407624.1:c.5011_5013CAC[1]
  • NM_001407625.1:c.5011_5013CAC[1]
  • NM_001407626.1:c.5011_5013CAC[1]
  • NM_001407627.1:c.5008_5010CAC[1]
  • NM_001407628.1:c.5008_5010CAC[1]
  • NM_001407629.1:c.5008_5010CAC[1]
  • NM_001407630.1:c.5008_5010CAC[1]
  • NM_001407631.1:c.5008_5010CAC[1]
  • NM_001407632.1:c.5008_5010CAC[1]
  • NM_001407633.1:c.5008_5010CAC[1]
  • NM_001407634.1:c.5008_5010CAC[1]
  • NM_001407635.1:c.5008_5010CAC[1]
  • NM_001407636.1:c.5008_5010CAC[1]
  • NM_001407637.1:c.5008_5010CAC[1]
  • NM_001407638.1:c.5008_5010CAC[1]
  • NM_001407639.1:c.5008_5010CAC[1]
  • NM_001407640.1:c.5008_5010CAC[1]
  • NM_001407641.1:c.5008_5010CAC[1]
  • NM_001407642.1:c.5008_5010CAC[1]
  • NM_001407644.1:c.5005_5007CAC[1]
  • NM_001407645.1:c.5005_5007CAC[1]
  • NM_001407646.1:c.5002_5004CAC[1]
  • NM_001407647.1:c.4999_5001CAC[1]
  • NM_001407648.1:c.4957_4959CAC[1]
  • NM_001407649.1:c.4954_4956CAC[1]
  • NM_001407652.1:c.5014_5016CAC[1]
  • NM_001407653.1:c.4936_4938CAC[1]
  • NM_001407654.1:c.4936_4938CAC[1]
  • NM_001407655.1:c.4936_4938CAC[1]
  • NM_001407656.1:c.4933_4935CAC[1]
  • NM_001407657.1:c.4933_4935CAC[1]
  • NM_001407658.1:c.4933_4935CAC[1]
  • NM_001407659.1:c.4930_4932CAC[1]
  • NM_001407660.1:c.4930_4932CAC[1]
  • NM_001407661.1:c.4930_4932CAC[1]
  • NM_001407662.1:c.4930_4932CAC[1]
  • NM_001407663.1:c.4930_4932CAC[1]
  • NM_001407664.1:c.4891_4893CAC[1]
  • NM_001407665.1:c.4891_4893CAC[1]
  • NM_001407666.1:c.4891_4893CAC[1]
  • NM_001407667.1:c.4891_4893CAC[1]
  • NM_001407668.1:c.4891_4893CAC[1]
  • NM_001407669.1:c.4891_4893CAC[1]
  • NM_001407670.1:c.4888_4890CAC[1]
  • NM_001407671.1:c.4888_4890CAC[1]
  • NM_001407672.1:c.4888_4890CAC[1]
  • NM_001407673.1:c.4888_4890CAC[1]
  • NM_001407674.1:c.4888_4890CAC[1]
  • NM_001407675.1:c.4888_4890CAC[1]
  • NM_001407676.1:c.4888_4890CAC[1]
  • NM_001407677.1:c.4888_4890CAC[1]
  • NM_001407678.1:c.4888_4890CAC[1]
  • NM_001407679.1:c.4888_4890CAC[1]
  • NM_001407680.1:c.4888_4890CAC[1]
  • NM_001407681.1:c.4885_4887CAC[1]
  • NM_001407682.1:c.4885_4887CAC[1]
  • NM_001407683.1:c.4885_4887CAC[1]
  • NM_001407684.1:c.5014_5016CAC[1]
  • NM_001407685.1:c.4885_4887CAC[1]
  • NM_001407686.1:c.4885_4887CAC[1]
  • NM_001407687.1:c.4885_4887CAC[1]
  • NM_001407688.1:c.4885_4887CAC[1]
  • NM_001407689.1:c.4885_4887CAC[1]
  • NM_001407690.1:c.4882_4884CAC[1]
  • NM_001407691.1:c.4882_4884CAC[1]
  • NM_001407692.1:c.4873_4875CAC[1]
  • NM_001407694.1:c.4873_4875CAC[1]
  • NM_001407695.1:c.4873_4875CAC[1]
  • NM_001407696.1:c.4873_4875CAC[1]
  • NM_001407697.1:c.4873_4875CAC[1]
  • NM_001407698.1:c.4873_4875CAC[1]
  • NM_001407724.1:c.4873_4875CAC[1]
  • NM_001407725.1:c.4873_4875CAC[1]
  • NM_001407726.1:c.4873_4875CAC[1]
  • NM_001407727.1:c.4873_4875CAC[1]
  • NM_001407728.1:c.4873_4875CAC[1]
  • NM_001407729.1:c.4873_4875CAC[1]
  • NM_001407730.1:c.4873_4875CAC[1]
  • NM_001407731.1:c.4873_4875CAC[1]
  • NM_001407732.1:c.4870_4872CAC[1]
  • NM_001407733.1:c.4870_4872CAC[1]
  • NM_001407734.1:c.4870_4872CAC[1]
  • NM_001407735.1:c.4870_4872CAC[1]
  • NM_001407736.1:c.4870_4872CAC[1]
  • NM_001407737.1:c.4870_4872CAC[1]
  • NM_001407738.1:c.4870_4872CAC[1]
  • NM_001407739.1:c.4870_4872CAC[1]
  • NM_001407740.1:c.4870_4872CAC[1]
  • NM_001407741.1:c.4870_4872CAC[1]
  • NM_001407742.1:c.4870_4872CAC[1]
  • NM_001407743.1:c.4870_4872CAC[1]
  • NM_001407744.1:c.4870_4872CAC[1]
  • NM_001407745.1:c.4870_4872CAC[1]
  • NM_001407746.1:c.4870_4872CAC[1]
  • NM_001407747.1:c.4870_4872CAC[1]
  • NM_001407748.1:c.4870_4872CAC[1]
  • NM_001407749.1:c.4870_4872CAC[1]
  • NM_001407750.1:c.4870_4872CAC[1]
  • NM_001407751.1:c.4870_4872CAC[1]
  • NM_001407752.1:c.4870_4872CAC[1]
  • NM_001407838.1:c.4867_4869CAC[1]
  • NM_001407839.1:c.4867_4869CAC[1]
  • NM_001407841.1:c.4867_4869CAC[1]
  • NM_001407842.1:c.4867_4869CAC[1]
  • NM_001407843.1:c.4867_4869CAC[1]
  • NM_001407844.1:c.4867_4869CAC[1]
  • NM_001407845.1:c.4867_4869CAC[1]
  • NM_001407846.1:c.4867_4869CAC[1]
  • NM_001407847.1:c.4867_4869CAC[1]
  • NM_001407848.1:c.4867_4869CAC[1]
  • NM_001407849.1:c.4867_4869CAC[1]
  • NM_001407850.1:c.4867_4869CAC[1]
  • NM_001407851.1:c.4867_4869CAC[1]
  • NM_001407852.1:c.4867_4869CAC[1]
  • NM_001407853.1:c.4867_4869CAC[1]
  • NM_001407854.1:c.5014_5016CAC[1]
  • NM_001407858.1:c.5011_5013CAC[1]
  • NM_001407859.1:c.5011_5013CAC[1]
  • NM_001407860.1:c.5011_5013CAC[1]
  • NM_001407861.1:c.5008_5010CAC[1]
  • NM_001407862.1:c.4813_4815CAC[1]
  • NM_001407863.1:c.4888_4890CAC[1]
  • NM_001407874.1:c.4807_4809CAC[1]
  • NM_001407875.1:c.4807_4809CAC[1]
  • NM_001407879.1:c.4804_4806CAC[1]
  • NM_001407881.1:c.4804_4806CAC[1]
  • NM_001407882.1:c.4804_4806CAC[1]
  • NM_001407884.1:c.4804_4806CAC[1]
  • NM_001407885.1:c.4804_4806CAC[1]
  • NM_001407886.1:c.4804_4806CAC[1]
  • NM_001407887.1:c.4804_4806CAC[1]
  • NM_001407889.1:c.4804_4806CAC[1]
  • NM_001407894.1:c.4801_4803CAC[1]
  • NM_001407895.1:c.4801_4803CAC[1]
  • NM_001407896.1:c.4801_4803CAC[1]
  • NM_001407897.1:c.4801_4803CAC[1]
  • NM_001407898.1:c.4801_4803CAC[1]
  • NM_001407899.1:c.4801_4803CAC[1]
  • NM_001407900.1:c.4801_4803CAC[1]
  • NM_001407902.1:c.4801_4803CAC[1]
  • NM_001407904.1:c.4801_4803CAC[1]
  • NM_001407906.1:c.4801_4803CAC[1]
  • NM_001407907.1:c.4801_4803CAC[1]
  • NM_001407908.1:c.4801_4803CAC[1]
  • NM_001407909.1:c.4801_4803CAC[1]
  • NM_001407910.1:c.4801_4803CAC[1]
  • NM_001407915.1:c.4798_4800CAC[1]
  • NM_001407916.1:c.4798_4800CAC[1]
  • NM_001407917.1:c.4798_4800CAC[1]
  • NM_001407918.1:c.4798_4800CAC[1]
  • NM_001407919.1:c.4891_4893CAC[1]
  • NM_001407920.1:c.4750_4752CAC[1]
  • NM_001407921.1:c.4750_4752CAC[1]
  • NM_001407922.1:c.4750_4752CAC[1]
  • NM_001407923.1:c.4750_4752CAC[1]
  • NM_001407924.1:c.4750_4752CAC[1]
  • NM_001407925.1:c.4750_4752CAC[1]
  • NM_001407926.1:c.4750_4752CAC[1]
  • NM_001407927.1:c.4747_4749CAC[1]
  • NM_001407928.1:c.4747_4749CAC[1]
  • NM_001407929.1:c.4747_4749CAC[1]
  • NM_001407930.1:c.4747_4749CAC[1]
  • NM_001407931.1:c.4747_4749CAC[1]
  • NM_001407932.1:c.4747_4749CAC[1]
  • NM_001407933.1:c.4747_4749CAC[1]
  • NM_001407934.1:c.4744_4746CAC[1]
  • NM_001407935.1:c.4744_4746CAC[1]
  • NM_001407936.1:c.4744_4746CAC[1]
  • NM_001407937.1:c.4891_4893CAC[1]
  • NM_001407938.1:c.4891_4893CAC[1]
  • NM_001407939.1:c.4888_4890CAC[1]
  • NM_001407940.1:c.4888_4890CAC[1]
  • NM_001407941.1:c.4885_4887CAC[1]
  • NM_001407942.1:c.4873_4875CAC[1]
  • NM_001407943.1:c.4870_4872CAC[1]
  • NM_001407944.1:c.4870_4872CAC[1]
  • NM_001407945.1:c.4870_4872CAC[1]
  • NM_001407946.1:c.4681_4683CAC[1]
  • NM_001407947.1:c.4681_4683CAC[1]
  • NM_001407948.1:c.4681_4683CAC[1]
  • NM_001407949.1:c.4681_4683CAC[1]
  • NM_001407950.1:c.4678_4680CAC[1]
  • NM_001407951.1:c.4678_4680CAC[1]
  • NM_001407952.1:c.4678_4680CAC[1]
  • NM_001407953.1:c.4678_4680CAC[1]
  • NM_001407954.1:c.4678_4680CAC[1]
  • NM_001407955.1:c.4678_4680CAC[1]
  • NM_001407956.1:c.4675_4677CAC[1]
  • NM_001407957.1:c.4675_4677CAC[1]
  • NM_001407958.1:c.4675_4677CAC[1]
  • NM_001407959.1:c.4633_4635CAC[1]
  • NM_001407960.1:c.4630_4632CAC[1]
  • NM_001407962.1:c.4630_4632CAC[1]
  • NM_001407963.1:c.4627_4629CAC[1]
  • NM_001407964.1:c.4552_4554CAC[1]
  • NM_001407965.1:c.4507_4509CAC[1]
  • NM_001407966.1:c.4126_4128CAC[1]
  • NM_001407967.1:c.4123_4125CAC[1]
  • NM_001407968.1:c.2410_2412CAC[1]
  • NM_001407969.1:c.2407_2409CAC[1]
  • NM_001407970.1:c.1771_1773CAC[1]
  • NM_001407971.1:c.1771_1773CAC[1]
  • NM_001407972.1:c.1768_1770CAC[1]
  • NM_001407973.1:c.1705_1707CAC[1]
  • NM_001407974.1:c.1705_1707CAC[1]
  • NM_001407975.1:c.1705_1707CAC[1]
  • NM_001407976.1:c.1705_1707CAC[1]
  • NM_001407977.1:c.1705_1707CAC[1]
  • NM_001407978.1:c.1705_1707CAC[1]
  • NM_001407979.1:c.1702_1704CAC[1]
  • NM_001407980.1:c.1702_1704CAC[1]
  • NM_001407981.1:c.1702_1704CAC[1]
  • NM_001407982.1:c.1702_1704CAC[1]
  • NM_001407983.1:c.1702_1704CAC[1]
  • NM_001407984.1:c.1702_1704CAC[1]
  • NM_001407985.1:c.1702_1704CAC[1]
  • NM_001407986.1:c.1702_1704CAC[1]
  • NM_001407990.1:c.1702_1704CAC[1]
  • NM_001407991.1:c.1702_1704CAC[1]
  • NM_001407992.1:c.1702_1704CAC[1]
  • NM_001407993.1:c.1702_1704CAC[1]
  • NM_001408392.1:c.1699_1701CAC[1]
  • NM_001408396.1:c.1699_1701CAC[1]
  • NM_001408397.1:c.1699_1701CAC[1]
  • NM_001408398.1:c.1699_1701CAC[1]
  • NM_001408399.1:c.1699_1701CAC[1]
  • NM_001408400.1:c.1699_1701CAC[1]
  • NM_001408401.1:c.1699_1701CAC[1]
  • NM_001408402.1:c.1699_1701CAC[1]
  • NM_001408403.1:c.1699_1701CAC[1]
  • NM_001408404.1:c.1699_1701CAC[1]
  • NM_001408406.1:c.1696_1698CAC[1]
  • NM_001408407.1:c.1696_1698CAC[1]
  • NM_001408408.1:c.1696_1698CAC[1]
  • NM_001408409.1:c.1693_1695CAC[1]
  • NM_001408410.1:c.1630_1632CAC[1]
  • NM_001408411.1:c.1627_1629CAC[1]
  • NM_001408412.1:c.1624_1626CAC[1]
  • NM_001408413.1:c.1624_1626CAC[1]
  • NM_001408414.1:c.1624_1626CAC[1]
  • NM_001408415.1:c.1624_1626CAC[1]
  • NM_001408416.1:c.1624_1626CAC[1]
  • NM_001408418.1:c.1588_1590CAC[1]
  • NM_001408419.1:c.1588_1590CAC[1]
  • NM_001408420.1:c.1588_1590CAC[1]
  • NM_001408421.1:c.1585_1587CAC[1]
  • NM_001408422.1:c.1585_1587CAC[1]
  • NM_001408423.1:c.1585_1587CAC[1]
  • NM_001408424.1:c.1585_1587CAC[1]
  • NM_001408425.1:c.1582_1584CAC[1]
  • NM_001408426.1:c.1582_1584CAC[1]
  • NM_001408427.1:c.1582_1584CAC[1]
  • NM_001408428.1:c.1582_1584CAC[1]
  • NM_001408429.1:c.1582_1584CAC[1]
  • NM_001408430.1:c.1582_1584CAC[1]
  • NM_001408431.1:c.1582_1584CAC[1]
  • NM_001408432.1:c.1579_1581CAC[1]
  • NM_001408433.1:c.1579_1581CAC[1]
  • NM_001408434.1:c.1579_1581CAC[1]
  • NM_001408435.1:c.1579_1581CAC[1]
  • NM_001408436.1:c.1579_1581CAC[1]
  • NM_001408437.1:c.1579_1581CAC[1]
  • NM_001408438.1:c.1579_1581CAC[1]
  • NM_001408439.1:c.1579_1581CAC[1]
  • NM_001408440.1:c.1579_1581CAC[1]
  • NM_001408441.1:c.1579_1581CAC[1]
  • NM_001408442.1:c.1579_1581CAC[1]
  • NM_001408443.1:c.1579_1581CAC[1]
  • NM_001408444.1:c.1579_1581CAC[1]
  • NM_001408445.1:c.1576_1578CAC[1]
  • NM_001408446.1:c.1576_1578CAC[1]
  • NM_001408447.1:c.1576_1578CAC[1]
  • NM_001408448.1:c.1576_1578CAC[1]
  • NM_001408450.1:c.1576_1578CAC[1]
  • NM_001408451.1:c.1570_1572CAC[1]
  • NM_001408452.1:c.1564_1566CAC[1]
  • NM_001408453.1:c.1564_1566CAC[1]
  • NM_001408454.1:c.1564_1566CAC[1]
  • NM_001408455.1:c.1564_1566CAC[1]
  • NM_001408456.1:c.1564_1566CAC[1]
  • NM_001408457.1:c.1564_1566CAC[1]
  • NM_001408458.1:c.1561_1563CAC[1]
  • NM_001408459.1:c.1561_1563CAC[1]
  • NM_001408460.1:c.1561_1563CAC[1]
  • NM_001408461.1:c.1561_1563CAC[1]
  • NM_001408462.1:c.1561_1563CAC[1]
  • NM_001408463.1:c.1561_1563CAC[1]
  • NM_001408464.1:c.1561_1563CAC[1]
  • NM_001408465.1:c.1561_1563CAC[1]
  • NM_001408466.1:c.1561_1563CAC[1]
  • NM_001408467.1:c.1561_1563CAC[1]
  • NM_001408468.1:c.1558_1560CAC[1]
  • NM_001408469.1:c.1558_1560CAC[1]
  • NM_001408470.1:c.1558_1560CAC[1]
  • NM_001408472.1:c.1702_1704CAC[1]
  • NM_001408473.1:c.1699_1701CAC[1]
  • NM_001408474.1:c.1504_1506CAC[1]
  • NM_001408475.1:c.1501_1503CAC[1]
  • NM_001408476.1:c.1501_1503CAC[1]
  • NM_001408478.1:c.1495_1497CAC[1]
  • NM_001408479.1:c.1495_1497CAC[1]
  • NM_001408480.1:c.1495_1497CAC[1]
  • NM_001408481.1:c.1492_1494CAC[1]
  • NM_001408482.1:c.1492_1494CAC[1]
  • NM_001408483.1:c.1492_1494CAC[1]
  • NM_001408484.1:c.1492_1494CAC[1]
  • NM_001408485.1:c.1492_1494CAC[1]
  • NM_001408489.1:c.1492_1494CAC[1]
  • NM_001408490.1:c.1492_1494CAC[1]
  • NM_001408491.1:c.1492_1494CAC[1]
  • NM_001408492.1:c.1489_1491CAC[1]
  • NM_001408493.1:c.1489_1491CAC[1]
  • NM_001408494.1:c.1465_1467CAC[1]
  • NM_001408495.1:c.1459_1461CAC[1]
  • NM_001408496.1:c.1441_1443CAC[1]
  • NM_001408497.1:c.1441_1443CAC[1]
  • NM_001408498.1:c.1441_1443CAC[1]
  • NM_001408499.1:c.1441_1443CAC[1]
  • NM_001408500.1:c.1441_1443CAC[1]
  • NM_001408501.1:c.1441_1443CAC[1]
  • NM_001408502.1:c.1438_1440CAC[1]
  • NM_001408503.1:c.1438_1440CAC[1]
  • NM_001408504.1:c.1438_1440CAC[1]
  • NM_001408505.1:c.1435_1437CAC[1]
  • NM_001408506.1:c.1378_1380CAC[1]
  • NM_001408507.1:c.1375_1377CAC[1]
  • NM_001408508.1:c.1366_1368CAC[1]
  • NM_001408509.1:c.1363_1365CAC[1]
  • NM_001408510.1:c.1324_1326CAC[1]
  • NM_001408511.1:c.1321_1323CAC[1]
  • NM_001408512.1:c.1201_1203CAC[1]
  • NM_001408513.1:c.1174_1176CAC[1]
  • NM_007294.4:c.5014CAC[1]MANE SELECT
  • NM_007297.4:c.4873CAC[1]
  • NM_007298.4:c.1702_1704CAC[1]
  • NM_007299.4:c.1702CAC[1]
  • NM_007300.4:c.5077CAC[1]
  • NM_007304.2:c.1702_1704CAC[1]
  • NP_001394500.1:p.His1602del
  • NP_001394510.1:p.His1695del
  • NP_001394511.1:p.His1695del
  • NP_001394512.1:p.His1694del
  • NP_001394514.1:p.His1694del
  • NP_001394516.1:p.His1694del
  • NP_001394519.1:p.His1693del
  • NP_001394520.1:p.His1693del
  • NP_001394522.1:p.His1673del
  • NP_001394523.1:p.His1673del
  • NP_001394525.1:p.His1673del
  • NP_001394526.1:p.His1673del
  • NP_001394527.1:p.His1673del
  • NP_001394531.1:p.His1673del
  • NP_001394532.1:p.His1673del
  • NP_001394534.1:p.His1673del
  • NP_001394539.1:p.His1672del
  • NP_001394540.1:p.His1672del
  • NP_001394541.1:p.His1672del
  • NP_001394542.1:p.His1672del
  • NP_001394543.1:p.His1672del
  • NP_001394544.1:p.His1672del
  • NP_001394545.1:p.His1672del
  • NP_001394546.1:p.His1672del
  • NP_001394547.1:p.His1672del
  • NP_001394548.1:p.His1672del
  • NP_001394549.1:p.His1672del
  • NP_001394550.1:p.His1672del
  • NP_001394551.1:p.His1672del
  • NP_001394552.1:p.His1672del
  • NP_001394553.1:p.His1672del
  • NP_001394554.1:p.His1672del
  • NP_001394555.1:p.His1672del
  • NP_001394556.1:p.His1671del
  • NP_001394557.1:p.His1671del
  • NP_001394558.1:p.His1671del
  • NP_001394559.1:p.His1671del
  • NP_001394560.1:p.His1671del
  • NP_001394561.1:p.His1671del
  • NP_001394562.1:p.His1671del
  • NP_001394563.1:p.His1671del
  • NP_001394564.1:p.His1671del
  • NP_001394565.1:p.His1671del
  • NP_001394566.1:p.His1671del
  • NP_001394567.1:p.His1671del
  • NP_001394568.1:p.His1671del
  • NP_001394569.1:p.His1671del
  • NP_001394570.1:p.His1671del
  • NP_001394571.1:p.His1671del
  • NP_001394573.1:p.His1670del
  • NP_001394574.1:p.His1670del
  • NP_001394575.1:p.His1669del
  • NP_001394576.1:p.His1668del
  • NP_001394577.1:p.His1654del
  • NP_001394578.1:p.His1653del
  • NP_001394581.1:p.His1673del
  • NP_001394582.1:p.His1647del
  • NP_001394583.1:p.His1647del
  • NP_001394584.1:p.His1647del
  • NP_001394585.1:p.His1646del
  • NP_001394586.1:p.His1646del
  • NP_001394587.1:p.His1646del
  • NP_001394588.1:p.His1645del
  • NP_001394589.1:p.His1645del
  • NP_001394590.1:p.His1645del
  • NP_001394591.1:p.His1645del
  • NP_001394592.1:p.His1645del
  • NP_001394593.1:p.His1632del
  • NP_001394594.1:p.His1632del
  • NP_001394595.1:p.His1632del
  • NP_001394596.1:p.His1632del
  • NP_001394597.1:p.His1632del
  • NP_001394598.1:p.His1632del
  • NP_001394599.1:p.His1631del
  • NP_001394600.1:p.His1631del
  • NP_001394601.1:p.His1631del
  • NP_001394602.1:p.His1631del
  • NP_001394603.1:p.His1631del
  • NP_001394604.1:p.His1631del
  • NP_001394605.1:p.His1631del
  • NP_001394606.1:p.His1631del
  • NP_001394607.1:p.His1631del
  • NP_001394608.1:p.His1631del
  • NP_001394609.1:p.His1631del
  • NP_001394610.1:p.His1630del
  • NP_001394611.1:p.His1630del
  • NP_001394612.1:p.His1630del
  • NP_001394613.1:p.His1673del
  • NP_001394614.1:p.His1630del
  • NP_001394615.1:p.His1630del
  • NP_001394616.1:p.His1630del
  • NP_001394617.1:p.His1630del
  • NP_001394618.1:p.His1630del
  • NP_001394619.1:p.His1629del
  • NP_001394620.1:p.His1629del
  • NP_001394621.1:p.His1626del
  • NP_001394623.1:p.His1626del
  • NP_001394624.1:p.His1626del
  • NP_001394625.1:p.His1626del
  • NP_001394626.1:p.His1626del
  • NP_001394627.1:p.His1626del
  • NP_001394653.1:p.His1626del
  • NP_001394654.1:p.His1626del
  • NP_001394655.1:p.His1626del
  • NP_001394656.1:p.His1626del
  • NP_001394657.1:p.His1626del
  • NP_001394658.1:p.His1626del
  • NP_001394659.1:p.His1626del
  • NP_001394660.1:p.His1626del
  • NP_001394661.1:p.His1625del
  • NP_001394662.1:p.His1625del
  • NP_001394663.1:p.His1625del
  • NP_001394664.1:p.His1625del
  • NP_001394665.1:p.His1625del
  • NP_001394666.1:p.His1625del
  • NP_001394667.1:p.His1625del
  • NP_001394668.1:p.His1625del
  • NP_001394669.1:p.His1625del
  • NP_001394670.1:p.His1625del
  • NP_001394671.1:p.His1625del
  • NP_001394672.1:p.His1625del
  • NP_001394673.1:p.His1625del
  • NP_001394674.1:p.His1625del
  • NP_001394675.1:p.His1625del
  • NP_001394676.1:p.His1625del
  • NP_001394677.1:p.His1625del
  • NP_001394678.1:p.His1625del
  • NP_001394679.1:p.His1625del
  • NP_001394680.1:p.His1625del
  • NP_001394681.1:p.His1625del
  • NP_001394767.1:p.His1624del
  • NP_001394768.1:p.His1624del
  • NP_001394770.1:p.His1624del
  • NP_001394771.1:p.His1624del
  • NP_001394772.1:p.His1624del
  • NP_001394773.1:p.His1624del
  • NP_001394774.1:p.His1624del
  • NP_001394775.1:p.His1624del
  • NP_001394776.1:p.His1624del
  • NP_001394777.1:p.His1624del
  • NP_001394778.1:p.His1624del
  • NP_001394779.1:p.His1624del
  • NP_001394780.1:p.His1624del
  • NP_001394781.1:p.His1624del
  • NP_001394782.1:p.His1624del
  • NP_001394783.1:p.His1673del
  • NP_001394787.1:p.His1672del
  • NP_001394788.1:p.His1672del
  • NP_001394789.1:p.His1672del
  • NP_001394790.1:p.His1671del
  • NP_001394791.1:p.His1606del
  • NP_001394792.1:p.His1631del
  • NP_001394803.1:p.His1604del
  • NP_001394804.1:p.His1604del
  • NP_001394808.1:p.His1603del
  • NP_001394810.1:p.His1603del
  • NP_001394811.1:p.His1603del
  • NP_001394813.1:p.His1603del
  • NP_001394814.1:p.His1603del
  • NP_001394815.1:p.His1603del
  • NP_001394816.1:p.His1603del
  • NP_001394818.1:p.His1603del
  • NP_001394823.1:p.His1602del
  • NP_001394824.1:p.His1602del
  • NP_001394825.1:p.His1602del
  • NP_001394826.1:p.His1602del
  • NP_001394827.1:p.His1602del
  • NP_001394828.1:p.His1602del
  • NP_001394829.1:p.His1602del
  • NP_001394831.1:p.His1602del
  • NP_001394833.1:p.His1602del
  • NP_001394835.1:p.His1602del
  • NP_001394836.1:p.His1602del
  • NP_001394837.1:p.His1602del
  • NP_001394838.1:p.His1602del
  • NP_001394839.1:p.His1602del
  • NP_001394844.1:p.His1601del
  • NP_001394845.1:p.His1601del
  • NP_001394846.1:p.His1601del
  • NP_001394847.1:p.His1601del
  • NP_001394848.1:p.His1632del
  • NP_001394849.1:p.His1585del
  • NP_001394850.1:p.His1585del
  • NP_001394851.1:p.His1585del
  • NP_001394852.1:p.His1585del
  • NP_001394853.1:p.His1585del
  • NP_001394854.1:p.His1585del
  • NP_001394855.1:p.His1585del
  • NP_001394856.1:p.His1584del
  • NP_001394857.1:p.His1584del
  • NP_001394858.1:p.His1584del
  • NP_001394859.1:p.His1584del
  • NP_001394860.1:p.His1584del
  • NP_001394861.1:p.His1584del
  • NP_001394862.1:p.His1584del
  • NP_001394863.1:p.His1583del
  • NP_001394864.1:p.His1583del
  • NP_001394865.1:p.His1583del
  • NP_001394866.1:p.His1632del
  • NP_001394867.1:p.His1632del
  • NP_001394868.1:p.His1631del
  • NP_001394869.1:p.His1631del
  • NP_001394870.1:p.His1630del
  • NP_001394871.1:p.His1626del
  • NP_001394872.1:p.His1625del
  • NP_001394873.1:p.His1625del
  • NP_001394874.1:p.His1625del
  • NP_001394875.1:p.His1562del
  • NP_001394876.1:p.His1562del
  • NP_001394877.1:p.His1562del
  • NP_001394878.1:p.His1562del
  • NP_001394879.1:p.His1561del
  • NP_001394880.1:p.His1561del
  • NP_001394881.1:p.His1561del
  • NP_001394882.1:p.His1561del
  • NP_001394883.1:p.His1561del
  • NP_001394884.1:p.His1561del
  • NP_001394885.1:p.His1560del
  • NP_001394886.1:p.His1560del
  • NP_001394887.1:p.His1560del
  • NP_001394888.1:p.His1546del
  • NP_001394889.1:p.His1545del
  • NP_001394891.1:p.His1545del
  • NP_001394892.1:p.His1544del
  • NP_001394893.1:p.His1519del
  • NP_001394894.1:p.His1504del
  • NP_001394895.1:p.His1377del
  • NP_001394896.1:p.His1376del
  • NP_001394897.1:p.His805del
  • NP_001394898.1:p.His804del
  • NP_001394899.1:p.His592del
  • NP_001394900.1:p.His592del
  • NP_001394901.1:p.His591del
  • NP_001394902.1:p.His570del
  • NP_001394903.1:p.His570del
  • NP_001394904.1:p.His570del
  • NP_001394905.1:p.His570del
  • NP_001394906.1:p.His570del
  • NP_001394907.1:p.His570del
  • NP_001394908.1:p.His569del
  • NP_001394909.1:p.His569del
  • NP_001394910.1:p.His569del
  • NP_001394911.1:p.His569del
  • NP_001394912.1:p.His569del
  • NP_001394913.1:p.His569del
  • NP_001394914.1:p.His569del
  • NP_001394915.1:p.His569del
  • NP_001394919.1:p.His569del
  • NP_001394920.1:p.His569del
  • NP_001394921.1:p.His569del
  • NP_001394922.1:p.His569del
  • NP_001395321.1:p.His568del
  • NP_001395325.1:p.His568del
  • NP_001395326.1:p.His568del
  • NP_001395327.1:p.His568del
  • NP_001395328.1:p.His568del
  • NP_001395329.1:p.His568del
  • NP_001395330.1:p.His568del
  • NP_001395331.1:p.His568del
  • NP_001395332.1:p.His568del
  • NP_001395333.1:p.His568del
  • NP_001395335.1:p.His567del
  • NP_001395336.1:p.His567del
  • NP_001395337.1:p.His567del
  • NP_001395338.1:p.His566del
  • NP_001395339.1:p.His545del
  • NP_001395340.1:p.His544del
  • NP_001395341.1:p.His543del
  • NP_001395342.1:p.His543del
  • NP_001395343.1:p.His543del
  • NP_001395344.1:p.His543del
  • NP_001395345.1:p.His543del
  • NP_001395347.1:p.His531del
  • NP_001395348.1:p.His531del
  • NP_001395349.1:p.His531del
  • NP_001395350.1:p.His530del
  • NP_001395351.1:p.His530del
  • NP_001395352.1:p.His530del
  • NP_001395353.1:p.His530del
  • NP_001395354.1:p.His529del
  • NP_001395355.1:p.His529del
  • NP_001395356.1:p.His529del
  • NP_001395357.1:p.His529del
  • NP_001395358.1:p.His529del
  • NP_001395359.1:p.His529del
  • NP_001395360.1:p.His529del
  • NP_001395361.1:p.His528del
  • NP_001395362.1:p.His528del
  • NP_001395363.1:p.His528del
  • NP_001395364.1:p.His528del
  • NP_001395365.1:p.His528del
  • NP_001395366.1:p.His528del
  • NP_001395367.1:p.His528del
  • NP_001395368.1:p.His528del
  • NP_001395369.1:p.His528del
  • NP_001395370.1:p.His528del
  • NP_001395371.1:p.His528del
  • NP_001395372.1:p.His528del
  • NP_001395373.1:p.His528del
  • NP_001395374.1:p.His527del
  • NP_001395375.1:p.His527del
  • NP_001395376.1:p.His527del
  • NP_001395377.1:p.His527del
  • NP_001395379.1:p.His527del
  • NP_001395380.1:p.His525del
  • NP_001395381.1:p.His523del
  • NP_001395382.1:p.His523del
  • NP_001395383.1:p.His523del
  • NP_001395384.1:p.His523del
  • NP_001395385.1:p.His523del
  • NP_001395386.1:p.His523del
  • NP_001395387.1:p.His522del
  • NP_001395388.1:p.His522del
  • NP_001395389.1:p.His522del
  • NP_001395390.1:p.His522del
  • NP_001395391.1:p.His522del
  • NP_001395392.1:p.His522del
  • NP_001395393.1:p.His522del
  • NP_001395394.1:p.His522del
  • NP_001395395.1:p.His522del
  • NP_001395396.1:p.His522del
  • NP_001395397.1:p.His521del
  • NP_001395398.1:p.His521del
  • NP_001395399.1:p.His521del
  • NP_001395401.1:p.His569del
  • NP_001395402.1:p.His568del
  • NP_001395403.1:p.His503del
  • NP_001395404.1:p.His502del
  • NP_001395405.1:p.His502del
  • NP_001395407.1:p.His500del
  • NP_001395408.1:p.His500del
  • NP_001395409.1:p.His500del
  • NP_001395410.1:p.His499del
  • NP_001395411.1:p.His499del
  • NP_001395412.1:p.His499del
  • NP_001395413.1:p.His499del
  • NP_001395414.1:p.His499del
  • NP_001395418.1:p.His499del
  • NP_001395419.1:p.His499del
  • NP_001395420.1:p.His499del
  • NP_001395421.1:p.His498del
  • NP_001395422.1:p.His498del
  • NP_001395423.1:p.His490del
  • NP_001395424.1:p.His488del
  • NP_001395425.1:p.His482del
  • NP_001395426.1:p.His482del
  • NP_001395427.1:p.His482del
  • NP_001395428.1:p.His482del
  • NP_001395429.1:p.His482del
  • NP_001395430.1:p.His482del
  • NP_001395431.1:p.His481del
  • NP_001395432.1:p.His481del
  • NP_001395433.1:p.His481del
  • NP_001395434.1:p.His480del
  • NP_001395435.1:p.His461del
  • NP_001395436.1:p.His460del
  • NP_001395437.1:p.His457del
  • NP_001395438.1:p.His456del
  • NP_001395439.1:p.His443del
  • NP_001395440.1:p.His442del
  • NP_001395441.1:p.His402del
  • NP_001395442.1:p.His393del
  • NP_009225.1:p.His1673del
  • NP_009225.1:p.His1673del
  • NP_009228.2:p.His1626del
  • NP_009229.2:p.His569del
  • NP_009229.2:p.His569del
  • NP_009230.2:p.His569del
  • NP_009231.2:p.His1694del
  • NP_009235.2:p.His569del
  • LRG_292t1:c.5014_5016CAC[1]
  • LRG_292:g.150316CAC[1]
  • LRG_292p1:p.His1673del
  • NC_000017.10:g.41219680GTG[1]
  • NC_000017.10:g.41219680_41219682del
  • NC_000017.10:g.41219680_41219682delGTG
  • NC_000017.10:g.41219683_41219685delGTG
  • NC_000017.10:g.41219683_41219685delGTG
  • NM_007294.3:c.5014_5016CAC[1]
  • NM_007294.3:c.5017_5019del
  • NM_007294.3:c.5017_5019del
  • NM_007294.3:c.5017_5019delCAC
  • NM_007294.4:c.5017_5019delMANE SELECT
  • NM_007298.3:c.1702CAC[1]
  • NR_027676.2:n.5191CAC[1]
  • U14680.1:n.5136_5138delCAC
Protein change:
H1376del
Links:
dbSNP: rs80358343
NCBI 1000 Genomes Browser:
rs80358343
Molecular consequence:
  • NM_007294.4:c.5014CAC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007297.4:c.4873CAC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007299.4:c.1702CAC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007300.4:c.5077CAC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407571.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407581.1:c.5080_5082CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407582.1:c.5080_5082CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407583.1:c.5077_5079CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407585.1:c.5077_5079CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407587.1:c.5077_5079CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407590.1:c.5074_5076CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407591.1:c.5074_5076CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407593.1:c.5014_5016CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407594.1:c.5014_5016CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407596.1:c.5014_5016CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407597.1:c.5014_5016CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407598.1:c.5014_5016CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407602.1:c.5014_5016CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407603.1:c.5014_5016CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407605.1:c.5014_5016CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407610.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407611.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407612.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407613.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407614.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407615.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407616.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407617.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407618.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407619.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407620.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407621.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407622.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407623.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407624.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407625.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407626.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407627.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407628.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407629.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407630.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407631.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407632.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407633.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407634.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407635.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407636.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407637.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407638.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407639.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407640.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407641.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407642.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407644.1:c.5005_5007CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407645.1:c.5005_5007CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407646.1:c.5002_5004CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407647.1:c.4999_5001CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407648.1:c.4957_4959CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407649.1:c.4954_4956CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407652.1:c.5014_5016CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407653.1:c.4936_4938CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407654.1:c.4936_4938CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407655.1:c.4936_4938CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407656.1:c.4933_4935CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407657.1:c.4933_4935CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407658.1:c.4933_4935CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407659.1:c.4930_4932CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407660.1:c.4930_4932CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407661.1:c.4930_4932CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407662.1:c.4930_4932CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407663.1:c.4930_4932CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407664.1:c.4891_4893CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407665.1:c.4891_4893CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407666.1:c.4891_4893CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407667.1:c.4891_4893CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407668.1:c.4891_4893CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407669.1:c.4891_4893CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407670.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407671.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407672.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407673.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407674.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407675.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407676.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407677.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407678.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407679.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407680.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407681.1:c.4885_4887CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407682.1:c.4885_4887CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407683.1:c.4885_4887CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407684.1:c.5014_5016CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407685.1:c.4885_4887CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407686.1:c.4885_4887CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407687.1:c.4885_4887CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407688.1:c.4885_4887CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407689.1:c.4885_4887CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407690.1:c.4882_4884CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407691.1:c.4882_4884CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407692.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407694.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407695.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407696.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407697.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407698.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407724.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407725.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407726.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407727.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407728.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407729.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407730.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407731.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407732.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407733.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407734.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407735.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407736.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407737.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407738.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407739.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407740.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407741.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407742.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407743.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407744.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407745.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407746.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407747.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407748.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407749.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407750.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407751.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407752.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407838.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407839.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407841.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407842.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407843.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407844.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407845.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407846.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407847.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407848.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407849.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407850.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407851.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407852.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407853.1:c.4867_4869CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407854.1:c.5014_5016CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407858.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407859.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407860.1:c.5011_5013CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407861.1:c.5008_5010CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407862.1:c.4813_4815CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407863.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407874.1:c.4807_4809CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407875.1:c.4807_4809CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407879.1:c.4804_4806CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407881.1:c.4804_4806CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407882.1:c.4804_4806CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407884.1:c.4804_4806CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407885.1:c.4804_4806CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407886.1:c.4804_4806CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407887.1:c.4804_4806CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407889.1:c.4804_4806CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407894.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407895.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407896.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407897.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407898.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407899.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407900.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407902.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407904.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407906.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407907.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407908.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407909.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407910.1:c.4801_4803CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407915.1:c.4798_4800CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407916.1:c.4798_4800CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407917.1:c.4798_4800CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407918.1:c.4798_4800CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407919.1:c.4891_4893CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407920.1:c.4750_4752CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407921.1:c.4750_4752CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407922.1:c.4750_4752CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407923.1:c.4750_4752CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407924.1:c.4750_4752CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407925.1:c.4750_4752CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407926.1:c.4750_4752CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407927.1:c.4747_4749CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407928.1:c.4747_4749CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407929.1:c.4747_4749CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407930.1:c.4747_4749CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407931.1:c.4747_4749CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407932.1:c.4747_4749CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407933.1:c.4747_4749CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407934.1:c.4744_4746CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407935.1:c.4744_4746CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407936.1:c.4744_4746CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407937.1:c.4891_4893CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407938.1:c.4891_4893CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407939.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407940.1:c.4888_4890CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407941.1:c.4885_4887CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407942.1:c.4873_4875CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407943.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407944.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407945.1:c.4870_4872CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407946.1:c.4681_4683CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407947.1:c.4681_4683CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407948.1:c.4681_4683CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407949.1:c.4681_4683CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407950.1:c.4678_4680CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407951.1:c.4678_4680CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407952.1:c.4678_4680CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407953.1:c.4678_4680CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407954.1:c.4678_4680CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407955.1:c.4678_4680CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407956.1:c.4675_4677CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407957.1:c.4675_4677CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407958.1:c.4675_4677CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407959.1:c.4633_4635CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407960.1:c.4630_4632CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407962.1:c.4630_4632CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407963.1:c.4627_4629CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407964.1:c.4552_4554CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407965.1:c.4507_4509CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407966.1:c.4126_4128CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407967.1:c.4123_4125CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407968.1:c.2410_2412CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407969.1:c.2407_2409CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407970.1:c.1771_1773CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407971.1:c.1771_1773CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407972.1:c.1768_1770CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407973.1:c.1705_1707CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407974.1:c.1705_1707CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407975.1:c.1705_1707CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407976.1:c.1705_1707CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407977.1:c.1705_1707CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407978.1:c.1705_1707CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407979.1:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407980.1:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407981.1:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407982.1:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407983.1:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407984.1:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407985.1:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407986.1:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407990.1:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407991.1:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407992.1:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001407993.1:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408392.1:c.1699_1701CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408396.1:c.1699_1701CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408397.1:c.1699_1701CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408398.1:c.1699_1701CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408399.1:c.1699_1701CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408400.1:c.1699_1701CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408401.1:c.1699_1701CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408402.1:c.1699_1701CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408403.1:c.1699_1701CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408404.1:c.1699_1701CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408406.1:c.1696_1698CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408407.1:c.1696_1698CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408408.1:c.1696_1698CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408409.1:c.1693_1695CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408410.1:c.1630_1632CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408411.1:c.1627_1629CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408412.1:c.1624_1626CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408413.1:c.1624_1626CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408414.1:c.1624_1626CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408415.1:c.1624_1626CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408416.1:c.1624_1626CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408418.1:c.1588_1590CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408419.1:c.1588_1590CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408420.1:c.1588_1590CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408421.1:c.1585_1587CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408422.1:c.1585_1587CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408423.1:c.1585_1587CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408424.1:c.1585_1587CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408425.1:c.1582_1584CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408426.1:c.1582_1584CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408427.1:c.1582_1584CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408428.1:c.1582_1584CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408429.1:c.1582_1584CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408430.1:c.1582_1584CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408431.1:c.1582_1584CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408432.1:c.1579_1581CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408433.1:c.1579_1581CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408434.1:c.1579_1581CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408435.1:c.1579_1581CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408436.1:c.1579_1581CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408437.1:c.1579_1581CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408438.1:c.1579_1581CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408439.1:c.1579_1581CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408440.1:c.1579_1581CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408441.1:c.1579_1581CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408442.1:c.1579_1581CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408443.1:c.1579_1581CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408444.1:c.1579_1581CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408445.1:c.1576_1578CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408446.1:c.1576_1578CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408447.1:c.1576_1578CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408448.1:c.1576_1578CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408450.1:c.1576_1578CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408451.1:c.1570_1572CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408452.1:c.1564_1566CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408453.1:c.1564_1566CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408454.1:c.1564_1566CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408455.1:c.1564_1566CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408456.1:c.1564_1566CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408457.1:c.1564_1566CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408458.1:c.1561_1563CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408459.1:c.1561_1563CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408460.1:c.1561_1563CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408461.1:c.1561_1563CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408462.1:c.1561_1563CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408463.1:c.1561_1563CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408464.1:c.1561_1563CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408465.1:c.1561_1563CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408466.1:c.1561_1563CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408467.1:c.1561_1563CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408468.1:c.1558_1560CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408469.1:c.1558_1560CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408470.1:c.1558_1560CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408472.1:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408473.1:c.1699_1701CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408474.1:c.1504_1506CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408475.1:c.1501_1503CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408476.1:c.1501_1503CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408478.1:c.1495_1497CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408479.1:c.1495_1497CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408480.1:c.1495_1497CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408481.1:c.1492_1494CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408482.1:c.1492_1494CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408483.1:c.1492_1494CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408484.1:c.1492_1494CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408485.1:c.1492_1494CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408489.1:c.1492_1494CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408490.1:c.1492_1494CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408491.1:c.1492_1494CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408492.1:c.1489_1491CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408493.1:c.1489_1491CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408494.1:c.1465_1467CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408495.1:c.1459_1461CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408496.1:c.1441_1443CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408497.1:c.1441_1443CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408498.1:c.1441_1443CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408499.1:c.1441_1443CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408500.1:c.1441_1443CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408501.1:c.1441_1443CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408502.1:c.1438_1440CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408503.1:c.1438_1440CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408504.1:c.1438_1440CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408505.1:c.1435_1437CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408506.1:c.1378_1380CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408507.1:c.1375_1377CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408508.1:c.1366_1368CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408509.1:c.1363_1365CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408510.1:c.1324_1326CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408511.1:c.1321_1323CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408512.1:c.1201_1203CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001408513.1:c.1174_1176CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_007298.4:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_007304.2:c.1702_1704CAC[1] - inframe_indel - [Sequence Ontology: SO:0001820]
  • NR_027676.2:n.5191CAC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000683241Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 1, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001185296Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely pathogenic
(Nov 10, 2020) 		germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

PubMed [citation]
PMID:
31131967
PMCID:
PMC6772163

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
See all PubMed Citations (11)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000683241.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant causes a deletion of histidine at codon 1673 in the BRCT1 domain of the BRCA1 protein. To our knowledge, functional studies have not been reported for this variant. In silico modeling has shown that His1673 in the BRCT domain of BRCA1 is predicted to interact with the BRCT domain of BARD1 (PMID 28186987). This variant has been reported in more than 20 unrelated individuals affected with breast and/or ovarian cancer (11802209, 19499246, 28186987, 28364669, 30725392, 33078592, 33801055, 33875706, 34063308), and a multifactorial analysis has reported a segregation likelihood ratio for pathogenicity of 17.5575 (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Although additional studies are necessary to determine the mechanism of disease for this variant, this variant is classified as Likely Pathogenic based on the available clinical evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Ambry Genetics, SCV001185296.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (9)

Description

The c.5017_5019delCAC variant (also known as p.H1673del) is located in coding exon 15 of the BRCA1 gene. This variant results from an in-frame deletion of 3 nucleotides at positions 5017 to 5019. This results in the deletion of a histidine residue at codon 1673 that is not well conserved. This alteration has been reported in a German cohort of families with one or more cases of breast and at least one ovarian cancer (Meindl A et al, Int. J. Cancer 2002 Feb; 97(4):472-80). This alteration was also reported in 14 Northern Italian families with breast and/or ovarian cancer whose tumors demonstrated frequent BRCA1 loss-of-heterozygosity in tumors (Zuntini R et al. Oncotarget, 2017 Apr;8:22640-22648). This alteration segregates strongly with breast and ovarian cancer in multiple families (Ambry internal data; Zuntini R et al. Oncotarget, 2017 Apr;8:22640-22648). This alteration is also designated as 5136delCAC in the published literature. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2024