dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs767221177
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr11:47475368 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- delT
- Variation Type
- Deletion
- Frequency
- delT=0.000008 (1/121320, ExAC)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- CELF1 : Frameshift Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
ExAC | Global | Study-wide | 121320 | T=0.999992 | delT=0.000008 |
ExAC | Europe | Sub | 73292 | T=1.00000 | delT=0.00000 |
ExAC | Asian | Sub | 25154 | T=0.99996 | delT=0.00004 |
ExAC | American | Sub | 11566 | T=1.00000 | delT=0.00000 |
ExAC | African | Sub | 10400 | T=1.00000 | delT=0.00000 |
ExAC | Other | Sub | 908 | T=1.000 | delT=0.000 |
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Sequence name | Change |
---|---|
GRCh38.p14 chr 11 | NC_000011.10:g.47475368del |
GRCh37.p13 chr 11 | NC_000011.9:g.47496920del |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CELF1 transcript variant 1 | NM_006560.4:c.1145del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 1 | NP_006551.1:p.Gln382fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 6 | NM_001330272.2:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 6 | NP_001317201.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 59 | NM_001376431.1:c.1154del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 5 | NP_001363360.1:p.Gln385fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 68 | NM_001376440.1:c.1148del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 2 | NP_001363369.1:p.Gln383fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 47 | NM_001376419.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363348.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 9 | NM_001376371.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 6 | NP_001363300.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 62 | NM_001376434.1:c.1148del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 2 | NP_001363363.1:p.Gln383fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 28 | NM_001376390.1:c.1226del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 9 | NP_001363319.1:p.Gln409fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 73 | NM_001376445.1:c.1145del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 1 | NP_001363374.1:p.Gln382fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 65 | NM_001376437.1:c.1148del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 2 | NP_001363366.1:p.Gln383fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 32 | NM_001376396.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363325.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 75 | NM_001376447.1:c.1145del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 22 | NP_001363376.1:p.Gln382fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 26 | NM_001376388.1:c.1226del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 9 | NP_001363317.1:p.Gln409fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 30 | NM_001376393.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363322.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 60 | NM_001376432.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 11 | NP_001363361.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 33 | NM_001376397.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363326.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 10 | NM_001376372.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 6 | NP_001363301.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 43 | NM_001376414.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363343.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 71 | NM_001376443.1:c.1145del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 1 | NP_001363372.1:p.Gln382fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 67 | NM_001376439.1:c.1148del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 2 | NP_001363368.1:p.Gln383fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 79 | NM_001376451.1:c.1238del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 13 | NP_001363380.1:p.Gln413fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 23 | NM_001376385.1:c.1229del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 8 | NP_001363314.1:p.Gln410fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 86 | NM_001376458.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 18 | NP_001363387.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 20 | NM_001376382.1:c.1238del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 24 | NP_001363311.1:p.Gln413fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 17 | NM_001376379.1:c.1238del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 7 | NP_001363308.1:p.Gln413fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 76 | NM_001376448.1:c.1145del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 1 | NP_001363377.1:p.Gln382fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 58 | NM_001376430.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363359.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 2 | NM_198700.3:c.1148del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 2 | NP_941989.1:p.Gln383fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 15 | NM_001376377.1:c.1238del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 7 | NP_001363306.1:p.Gln413fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 52 | NM_001376424.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363353.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 42 | NM_001376413.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363342.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 81 | NM_001376453.1:c.1112del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 15 | NP_001363382.1:p.Gln371fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 37 | NM_001376408.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363337.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 88 | NM_001376460.1:c.1031del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 19 | NP_001363389.1:p.Gln344fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 7 | NM_001376369.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 6 | NP_001363298.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 18 | NM_001376380.1:c.1238del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 7 | NP_001363309.1:p.Gln413fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 55 | NM_001376427.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363356.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 91 | NM_001376463.1:c.902del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 21 | NP_001363392.1:p.Gln301fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 51 | NM_001376423.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 23 | NP_001363352.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 22 | NM_001376384.1:c.1235del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 4 | NP_001363313.1:p.Gln412fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 4 | NM_001172639.2:c.1235del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 4 | NP_001166110.1:p.Gln412fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 31 | NM_001376395.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363324.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 12 | NM_001376374.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 6 | NP_001363303.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 3 | NM_001025596.3:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001020767.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 90 | NM_001376462.1:c.1028del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 20 | NP_001363391.1:p.Gln343fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 84 | NM_001376456.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 17 | NP_001363385.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 78 | NM_001376450.1:c.1142del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 12 | NP_001363379.1:p.Gln381fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 56 | NM_001376428.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363357.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 61 | NM_001376433.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 11 | NP_001363362.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 83 | NM_001376455.1:c.1109del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 25 | NP_001363384.1:p.Gln370fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 8 | NM_001376370.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 6 | NP_001363299.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 48 | NM_001376420.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363349.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 82 | NM_001376454.1:c.1109del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 16 | NP_001363383.1:p.Gln370fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 27 | NM_001376389.1:c.1226del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 9 | NP_001363318.1:p.Gln409fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 44 | NM_001376415.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363344.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 70 | NM_001376442.1:c.1145del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 1 | NP_001363371.1:p.Gln382fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 11 | NM_001376373.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 6 | NP_001363302.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 19 | NM_001376381.1:c.1238del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 7 | NP_001363310.1:p.Gln413fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 21 | NM_001376383.1:c.1238del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 7 | NP_001363312.1:p.Gln413fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 77 | NM_001376449.1:c.1145del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 1 | NP_001363378.1:p.Gln382fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 50 | NM_001376422.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363351.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 14 | NM_001376376.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 6 | NP_001363305.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 16 | NM_001376378.1:c.1238del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 7 | NP_001363307.1:p.Gln413fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 38 | NM_001376409.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363338.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 64 | NM_001376436.1:c.1148del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 2 | NP_001363365.1:p.Gln383fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 74 | NM_001376446.1:c.1145del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 1 | NP_001363375.1:p.Gln382fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 87 | NM_001376459.1:c.1031del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 19 | NP_001363388.1:p.Gln344fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 72 | NM_001376444.1:c.1145del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 1 | NP_001363373.1:p.Gln382fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 89 | NM_001376461.1:c.1028del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 20 | NP_001363390.1:p.Gln343fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 25 | NM_001376387.1:c.1226del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 9 | NP_001363316.1:p.Gln409fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 41 | NM_001376412.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363341.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 49 | NM_001376421.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363350.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 24 | NM_001376386.1:c.1229del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 8 | NP_001363315.1:p.Gln410fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 85 | NM_001376457.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 17 | NP_001363386.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 57 | NM_001376429.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363358.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 46 | NM_001376418.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363347.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 29 | NM_001376391.1:c.1226del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 9 | NP_001363320.1:p.Gln409fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 80 | NM_001376452.1:c.1142del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 14 | NP_001363381.1:p.Gln381fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 40 | NM_001376411.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363340.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 36 | NM_001376407.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363336.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 63 | NM_001376435.1:c.1148del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 2 | NP_001363364.1:p.Gln383fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 34 | NM_001376399.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363328.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 5 | NM_001172640.2:c.1154del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 5 | NP_001166111.1:p.Gln385fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 54 | NM_001376426.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363355.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 53 | NM_001376425.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363354.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 66 | NM_001376438.1:c.1148del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 2 | NP_001363367.1:p.Gln383fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 45 | NM_001376417.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 3 | NP_001363346.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 69 | NM_001376441.1:c.1148del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 2 | NP_001363370.1:p.Gln383fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 35 | NM_001376406.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363335.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 39 | NM_001376410.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 10 | NP_001363339.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant 13 | NM_001376375.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform 6 | NP_001363304.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X1 | XM_047426267.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X1 | XP_047282223.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X2 | XM_047426268.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X1 | XP_047282224.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X3 | XM_047426269.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X1 | XP_047282225.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X4 | XM_017017101.2:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X1 | XP_016872590.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X5 | XM_047426270.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X1 | XP_047282226.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X6 | XM_047426271.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X1 | XP_047282227.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X7 | XM_047426272.1:c.1241del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X1 | XP_047282228.1:p.Gln414fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X8 | XM_047426273.1:c.1238del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X2 | XP_047282229.1:p.Gln413fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X9 | XM_047426274.1:c.1229del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X3 | XP_047282230.1:p.Gln410fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X10 | XM_047426275.1:c.1229del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X3 | XP_047282231.1:p.Gln410fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X11 | XM_047426276.1:c.1226del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X4 | XP_047282232.1:p.Gln409fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X12 | XM_047426277.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X5 | XP_047282233.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X13 | XM_047426278.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X5 | XP_047282234.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X14 | XM_011519857.2:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X5 | XP_011518159.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X15 | XM_047426279.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X5 | XP_047282235.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X16 | XM_047426280.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X5 | XP_047282236.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X17 | XM_047426281.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X5 | XP_047282237.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X18 | XM_047426282.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X5 | XP_047282238.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X19 | XM_047426283.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X5 | XP_047282239.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X20 | XM_047426284.1:c.1160del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X5 | XP_047282240.1:p.Gln387fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X21 | XM_047426285.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X6 | XP_047282241.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X22 | XM_047426286.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X6 | XP_047282242.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X23 | XM_047426287.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X6 | XP_047282243.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X24 | XM_047426288.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X6 | XP_047282244.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X25 | XM_047426289.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X6 | XP_047282245.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X26 | XM_047426290.1:c.1157del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X6 | XP_047282246.1:p.Gln386fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X27 | XM_047426291.1:c.1148del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X7 | XP_047282247.1:p.Gln383fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X28 | XM_047426292.1:c.1148del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X7 | XP_047282248.1:p.Gln383fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X29 | XM_047426293.1:c.1145del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X8 | XP_047282249.1:p.Gln382fs | Q (Gln) > R (Arg) | Frameshift Variant |
CELF1 transcript variant X30 | XM_047426294.1:c.1145del | Q [CAG] > R [CG] | Coding Sequence Variant |
CUGBP Elav-like family member 1 isoform X8 | XP_047282250.1:p.Gln382fs | Q (Gln) > R (Arg) | Frameshift Variant |
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
Placement | T= | delT |
---|---|---|
GRCh38.p14 chr 11 | NC_000011.10:g.47475368= | NC_000011.10:g.47475368del |
GRCh37.p13 chr 11 | NC_000011.9:g.47496920= | NC_000011.9:g.47496920del |
CELF1 transcript variant 1 | NM_006560.4:c.1145= | NM_006560.4:c.1145del |
CELF1 transcript variant 1 | NM_006560.3:c.1145= | NM_006560.3:c.1145del |
CELF1 transcript variant 2 | NM_198700.3:c.1148= | NM_198700.3:c.1148del |
CELF1 transcript variant 2 | NM_198700.2:c.1148= | NM_198700.2:c.1148del |
CELF1 transcript variant 3 | NM_001025596.3:c.1157= | NM_001025596.3:c.1157del |
CELF1 transcript variant 3 | NM_001025596.2:c.1157= | NM_001025596.2:c.1157del |
CELF1 transcript variant X4 | XM_017017101.2:c.1241= | XM_017017101.2:c.1241del |
CELF1 transcript variant X1 | XM_017017101.1:c.1241= | XM_017017101.1:c.1241del |
CELF1 transcript variant 6 | NM_001330272.2:c.1241= | NM_001330272.2:c.1241del |
CELF1 transcript variant 6 | NM_001330272.1:c.1241= | NM_001330272.1:c.1241del |
CELF1 transcript variant X14 | XM_011519857.2:c.1160= | XM_011519857.2:c.1160del |
CELF1 transcript variant X19 | XM_011519857.1:c.1160= | XM_011519857.1:c.1160del |
CELF1 transcript variant 5 | NM_001172640.2:c.1154= | NM_001172640.2:c.1154del |
CELF1 transcript variant 5 | NM_001172640.1:c.1154= | NM_001172640.1:c.1154del |
CELF1 transcript variant 4 | NM_001172639.2:c.1235= | NM_001172639.2:c.1235del |
CELF1 transcript variant 4 | NM_001172639.1:c.1235= | NM_001172639.1:c.1235del |
CELF1 transcript variant X1 | XM_047426267.1:c.1241= | XM_047426267.1:c.1241del |
CELF1 transcript variant X2 | XM_047426268.1:c.1241= | XM_047426268.1:c.1241del |
CELF1 transcript variant X3 | XM_047426269.1:c.1241= | XM_047426269.1:c.1241del |
CELF1 transcript variant X12 | XM_047426277.1:c.1160= | XM_047426277.1:c.1160del |
CELF1 transcript variant X15 | XM_047426279.1:c.1160= | XM_047426279.1:c.1160del |
CELF1 transcript variant X5 | XM_047426270.1:c.1241= | XM_047426270.1:c.1241del |
CELF1 transcript variant X6 | XM_047426271.1:c.1241= | XM_047426271.1:c.1241del |
CELF1 transcript variant X7 | XM_047426272.1:c.1241= | XM_047426272.1:c.1241del |
CELF1 transcript variant 9 | NM_001376371.1:c.1241= | NM_001376371.1:c.1241del |
CELF1 transcript variant 16 | NM_001376378.1:c.1238= | NM_001376378.1:c.1238del |
CELF1 transcript variant 21 | NM_001376383.1:c.1238= | NM_001376383.1:c.1238del |
CELF1 transcript variant 79 | NM_001376451.1:c.1238= | NM_001376451.1:c.1238del |
CELF1 transcript variant 7 | NM_001376369.1:c.1241= | NM_001376369.1:c.1241del |
CELF1 transcript variant 86 | NM_001376458.1:c.1157= | NM_001376458.1:c.1157del |
CELF1 transcript variant 29 | NM_001376391.1:c.1226= | NM_001376391.1:c.1226del |
CELF1 transcript variant 14 | NM_001376376.1:c.1241= | NM_001376376.1:c.1241del |
CELF1 transcript variant 10 | NM_001376372.1:c.1241= | NM_001376372.1:c.1241del |
CELF1 transcript variant 20 | NM_001376382.1:c.1238= | NM_001376382.1:c.1238del |
CELF1 transcript variant 8 | NM_001376370.1:c.1241= | NM_001376370.1:c.1241del |
CELF1 transcript variant 38 | NM_001376409.1:c.1160= | NM_001376409.1:c.1160del |
CELF1 transcript variant 15 | NM_001376377.1:c.1238= | NM_001376377.1:c.1238del |
CELF1 transcript variant 23 | NM_001376385.1:c.1229= | NM_001376385.1:c.1229del |
CELF1 transcript variant 28 | NM_001376390.1:c.1226= | NM_001376390.1:c.1226del |
CELF1 transcript variant 85 | NM_001376457.1:c.1160= | NM_001376457.1:c.1160del |
CELF1 transcript variant 30 | NM_001376393.1:c.1160= | NM_001376393.1:c.1160del |
CELF1 transcript variant 45 | NM_001376417.1:c.1157= | NM_001376417.1:c.1157del |
CELF1 transcript variant 33 | NM_001376397.1:c.1160= | NM_001376397.1:c.1160del |
CELF1 transcript variant 42 | NM_001376413.1:c.1160= | NM_001376413.1:c.1160del |
CELF1 transcript variant 54 | NM_001376426.1:c.1157= | NM_001376426.1:c.1157del |
CELF1 transcript variant 74 | NM_001376446.1:c.1145= | NM_001376446.1:c.1145del |
CELF1 transcript variant X16 | XM_047426280.1:c.1160= | XM_047426280.1:c.1160del |
CELF1 transcript variant 53 | NM_001376425.1:c.1157= | NM_001376425.1:c.1157del |
CELF1 transcript variant 12 | NM_001376374.1:c.1241= | NM_001376374.1:c.1241del |
CELF1 transcript variant 17 | NM_001376379.1:c.1238= | NM_001376379.1:c.1238del |
CELF1 transcript variant 24 | NM_001376386.1:c.1229= | NM_001376386.1:c.1229del |
CELF1 transcript variant 26 | NM_001376388.1:c.1226= | NM_001376388.1:c.1226del |
CELF1 transcript variant 83 | NM_001376455.1:c.1109= | NM_001376455.1:c.1109del |
CELF1 transcript variant X17 | XM_047426281.1:c.1160= | XM_047426281.1:c.1160del |
CELF1 transcript variant 91 | NM_001376463.1:c.902= | NM_001376463.1:c.902del |
CELF1 transcript variant 44 | NM_001376415.1:c.1157= | NM_001376415.1:c.1157del |
CELF1 transcript variant 31 | NM_001376395.1:c.1160= | NM_001376395.1:c.1160del |
CELF1 transcript variant 47 | NM_001376419.1:c.1157= | NM_001376419.1:c.1157del |
CELF1 transcript variant 66 | NM_001376438.1:c.1148= | NM_001376438.1:c.1148del |
CELF1 transcript variant 70 | NM_001376442.1:c.1145= | NM_001376442.1:c.1145del |
CELF1 transcript variant 39 | NM_001376410.1:c.1160= | NM_001376410.1:c.1160del |
CELF1 transcript variant 71 | NM_001376443.1:c.1145= | NM_001376443.1:c.1145del |
CELF1 transcript variant 58 | NM_001376430.1:c.1157= | NM_001376430.1:c.1157del |
CELF1 transcript variant 84 | NM_001376456.1:c.1160= | NM_001376456.1:c.1160del |
CELF1 transcript variant 57 | NM_001376429.1:c.1157= | NM_001376429.1:c.1157del |
CELF1 transcript variant 69 | NM_001376441.1:c.1148= | NM_001376441.1:c.1148del |
CELF1 transcript variant 64 | NM_001376436.1:c.1148= | NM_001376436.1:c.1148del |
CELF1 transcript variant 76 | NM_001376448.1:c.1145= | NM_001376448.1:c.1145del |
CELF1 transcript variant 32 | NM_001376396.1:c.1160= | NM_001376396.1:c.1160del |
CELF1 transcript variant 51 | NM_001376423.1:c.1157= | NM_001376423.1:c.1157del |
CELF1 transcript variant 48 | NM_001376420.1:c.1157= | NM_001376420.1:c.1157del |
CELF1 transcript variant 59 | NM_001376431.1:c.1154= | NM_001376431.1:c.1154del |
CELF1 transcript variant 60 | NM_001376432.1:c.1157= | NM_001376432.1:c.1157del |
CELF1 transcript variant 65 | NM_001376437.1:c.1148= | NM_001376437.1:c.1148del |
CELF1 transcript variant 77 | NM_001376449.1:c.1145= | NM_001376449.1:c.1145del |
CELF1 transcript variant 78 | NM_001376450.1:c.1142= | NM_001376450.1:c.1142del |
CELF1 transcript variant X13 | XM_047426278.1:c.1160= | XM_047426278.1:c.1160del |
CELF1 transcript variant 67 | NM_001376439.1:c.1148= | NM_001376439.1:c.1148del |
CELF1 transcript variant 80 | NM_001376452.1:c.1142= | NM_001376452.1:c.1142del |
CELF1 transcript variant X21 | XM_047426285.1:c.1157= | XM_047426285.1:c.1157del |
CELF1 transcript variant 35 | NM_001376406.1:c.1160= | NM_001376406.1:c.1160del |
CELF1 transcript variant 82 | NM_001376454.1:c.1109= | NM_001376454.1:c.1109del |
CELF1 transcript variant 46 | NM_001376418.1:c.1157= | NM_001376418.1:c.1157del |
CELF1 transcript variant 61 | NM_001376433.1:c.1157= | NM_001376433.1:c.1157del |
CELF1 transcript variant 34 | NM_001376399.1:c.1160= | NM_001376399.1:c.1160del |
CELF1 transcript variant 88 | NM_001376460.1:c.1031= | NM_001376460.1:c.1031del |
CELF1 transcript variant 49 | NM_001376421.1:c.1157= | NM_001376421.1:c.1157del |
CELF1 transcript variant X24 | XM_047426288.1:c.1157= | XM_047426288.1:c.1157del |
CELF1 transcript variant 63 | NM_001376435.1:c.1148= | NM_001376435.1:c.1148del |
CELF1 transcript variant 72 | NM_001376444.1:c.1145= | NM_001376444.1:c.1145del |
CELF1 transcript variant X18 | XM_047426282.1:c.1160= | XM_047426282.1:c.1160del |
CELF1 transcript variant X25 | XM_047426289.1:c.1157= | XM_047426289.1:c.1157del |
CELF1 transcript variant X27 | XM_047426291.1:c.1148= | XM_047426291.1:c.1148del |
CELF1 transcript variant 89 | NM_001376461.1:c.1028= | NM_001376461.1:c.1028del |
CELF1 transcript variant 19 | NM_001376381.1:c.1238= | NM_001376381.1:c.1238del |
CELF1 transcript variant 13 | NM_001376375.1:c.1241= | NM_001376375.1:c.1241del |
CELF1 transcript variant 18 | NM_001376380.1:c.1238= | NM_001376380.1:c.1238del |
CELF1 transcript variant X10 | XM_047426275.1:c.1229= | XM_047426275.1:c.1229del |
CELF1 transcript variant 27 | NM_001376389.1:c.1226= | NM_001376389.1:c.1226del |
CELF1 transcript variant 50 | NM_001376422.1:c.1157= | NM_001376422.1:c.1157del |
CELF1 transcript variant 40 | NM_001376411.1:c.1160= | NM_001376411.1:c.1160del |
CELF1 transcript variant 56 | NM_001376428.1:c.1157= | NM_001376428.1:c.1157del |
CELF1 transcript variant 41 | NM_001376412.1:c.1160= | NM_001376412.1:c.1160del |
CELF1 transcript variant 36 | NM_001376407.1:c.1160= | NM_001376407.1:c.1160del |
CELF1 transcript variant 81 | NM_001376453.1:c.1112= | NM_001376453.1:c.1112del |
CELF1 transcript variant 43 | NM_001376414.1:c.1160= | NM_001376414.1:c.1160del |
CELF1 transcript variant 52 | NM_001376424.1:c.1157= | NM_001376424.1:c.1157del |
CELF1 transcript variant 55 | NM_001376427.1:c.1157= | NM_001376427.1:c.1157del |
CELF1 transcript variant 73 | NM_001376445.1:c.1145= | NM_001376445.1:c.1145del |
CELF1 transcript variant X23 | XM_047426287.1:c.1157= | XM_047426287.1:c.1157del |
CELF1 transcript variant X19 | XM_047426283.1:c.1160= | XM_047426283.1:c.1160del |
CELF1 transcript variant 90 | NM_001376462.1:c.1028= | NM_001376462.1:c.1028del |
CELF1 transcript variant 22 | NM_001376384.1:c.1235= | NM_001376384.1:c.1235del |
CELF1 transcript variant 25 | NM_001376387.1:c.1226= | NM_001376387.1:c.1226del |
CELF1 transcript variant 11 | NM_001376373.1:c.1241= | NM_001376373.1:c.1241del |
CELF1 transcript variant X8 | XM_047426273.1:c.1238= | XM_047426273.1:c.1238del |
CELF1 transcript variant X9 | XM_047426274.1:c.1229= | XM_047426274.1:c.1229del |
CELF1 transcript variant X11 | XM_047426276.1:c.1226= | XM_047426276.1:c.1226del |
CELF1 transcript variant 68 | NM_001376440.1:c.1148= | NM_001376440.1:c.1148del |
CELF1 transcript variant 37 | NM_001376408.1:c.1160= | NM_001376408.1:c.1160del |
CELF1 transcript variant 62 | NM_001376434.1:c.1148= | NM_001376434.1:c.1148del |
CELF1 transcript variant 75 | NM_001376447.1:c.1145= | NM_001376447.1:c.1145del |
CELF1 transcript variant X22 | XM_047426286.1:c.1157= | XM_047426286.1:c.1157del |
CELF1 transcript variant X29 | XM_047426293.1:c.1145= | XM_047426293.1:c.1145del |
CELF1 transcript variant X20 | XM_047426284.1:c.1160= | XM_047426284.1:c.1160del |
CELF1 transcript variant X26 | XM_047426290.1:c.1157= | XM_047426290.1:c.1157del |
CELF1 transcript variant X28 | XM_047426292.1:c.1148= | XM_047426292.1:c.1148del |
CELF1 transcript variant X30 | XM_047426294.1:c.1145= | XM_047426294.1:c.1145del |
CELF1 transcript variant 87 | NM_001376459.1:c.1031= | NM_001376459.1:c.1031del |
CUGBP Elav-like family member 1 isoform 1 | NP_006551.1:p.Gln382= | NP_006551.1:p.Gln382fs |
CUGBP Elav-like family member 1 isoform 2 | NP_941989.1:p.Gln383= | NP_941989.1:p.Gln383fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001020767.1:p.Gln386= | NP_001020767.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform X1 | XP_016872590.1:p.Gln414= | XP_016872590.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform 6 | NP_001317201.1:p.Gln414= | NP_001317201.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform X5 | XP_011518159.1:p.Gln387= | XP_011518159.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 5 | NP_001166111.1:p.Gln385= | NP_001166111.1:p.Gln385fs |
CUGBP Elav-like family member 1 isoform 4 | NP_001166110.1:p.Gln412= | NP_001166110.1:p.Gln412fs |
CUGBP Elav-like family member 1 isoform X1 | XP_047282223.1:p.Gln414= | XP_047282223.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform X1 | XP_047282224.1:p.Gln414= | XP_047282224.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform X1 | XP_047282225.1:p.Gln414= | XP_047282225.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform X5 | XP_047282233.1:p.Gln387= | XP_047282233.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform X5 | XP_047282235.1:p.Gln387= | XP_047282235.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform X1 | XP_047282226.1:p.Gln414= | XP_047282226.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform X1 | XP_047282227.1:p.Gln414= | XP_047282227.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform X1 | XP_047282228.1:p.Gln414= | XP_047282228.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform 6 | NP_001363300.1:p.Gln414= | NP_001363300.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform 7 | NP_001363307.1:p.Gln413= | NP_001363307.1:p.Gln413fs |
CUGBP Elav-like family member 1 isoform 7 | NP_001363312.1:p.Gln413= | NP_001363312.1:p.Gln413fs |
CUGBP Elav-like family member 1 isoform 13 | NP_001363380.1:p.Gln413= | NP_001363380.1:p.Gln413fs |
CUGBP Elav-like family member 1 isoform 6 | NP_001363298.1:p.Gln414= | NP_001363298.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform 18 | NP_001363387.1:p.Gln386= | NP_001363387.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 9 | NP_001363320.1:p.Gln409= | NP_001363320.1:p.Gln409fs |
CUGBP Elav-like family member 1 isoform 6 | NP_001363305.1:p.Gln414= | NP_001363305.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform 6 | NP_001363301.1:p.Gln414= | NP_001363301.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform 24 | NP_001363311.1:p.Gln413= | NP_001363311.1:p.Gln413fs |
CUGBP Elav-like family member 1 isoform 6 | NP_001363299.1:p.Gln414= | NP_001363299.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363338.1:p.Gln387= | NP_001363338.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 7 | NP_001363306.1:p.Gln413= | NP_001363306.1:p.Gln413fs |
CUGBP Elav-like family member 1 isoform 8 | NP_001363314.1:p.Gln410= | NP_001363314.1:p.Gln410fs |
CUGBP Elav-like family member 1 isoform 9 | NP_001363319.1:p.Gln409= | NP_001363319.1:p.Gln409fs |
CUGBP Elav-like family member 1 isoform 17 | NP_001363386.1:p.Gln387= | NP_001363386.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363322.1:p.Gln387= | NP_001363322.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363346.1:p.Gln386= | NP_001363346.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363326.1:p.Gln387= | NP_001363326.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363342.1:p.Gln387= | NP_001363342.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363355.1:p.Gln386= | NP_001363355.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 1 | NP_001363375.1:p.Gln382= | NP_001363375.1:p.Gln382fs |
CUGBP Elav-like family member 1 isoform X5 | XP_047282236.1:p.Gln387= | XP_047282236.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363354.1:p.Gln386= | NP_001363354.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 6 | NP_001363303.1:p.Gln414= | NP_001363303.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform 7 | NP_001363308.1:p.Gln413= | NP_001363308.1:p.Gln413fs |
CUGBP Elav-like family member 1 isoform 8 | NP_001363315.1:p.Gln410= | NP_001363315.1:p.Gln410fs |
CUGBP Elav-like family member 1 isoform 9 | NP_001363317.1:p.Gln409= | NP_001363317.1:p.Gln409fs |
CUGBP Elav-like family member 1 isoform 25 | NP_001363384.1:p.Gln370= | NP_001363384.1:p.Gln370fs |
CUGBP Elav-like family member 1 isoform X5 | XP_047282237.1:p.Gln387= | XP_047282237.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 21 | NP_001363392.1:p.Gln301= | NP_001363392.1:p.Gln301fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363344.1:p.Gln386= | NP_001363344.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363324.1:p.Gln387= | NP_001363324.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363348.1:p.Gln386= | NP_001363348.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 2 | NP_001363367.1:p.Gln383= | NP_001363367.1:p.Gln383fs |
CUGBP Elav-like family member 1 isoform 1 | NP_001363371.1:p.Gln382= | NP_001363371.1:p.Gln382fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363339.1:p.Gln387= | NP_001363339.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 1 | NP_001363372.1:p.Gln382= | NP_001363372.1:p.Gln382fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363359.1:p.Gln386= | NP_001363359.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 17 | NP_001363385.1:p.Gln387= | NP_001363385.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363358.1:p.Gln386= | NP_001363358.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 2 | NP_001363370.1:p.Gln383= | NP_001363370.1:p.Gln383fs |
CUGBP Elav-like family member 1 isoform 2 | NP_001363365.1:p.Gln383= | NP_001363365.1:p.Gln383fs |
CUGBP Elav-like family member 1 isoform 1 | NP_001363377.1:p.Gln382= | NP_001363377.1:p.Gln382fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363325.1:p.Gln387= | NP_001363325.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 23 | NP_001363352.1:p.Gln386= | NP_001363352.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363349.1:p.Gln386= | NP_001363349.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 5 | NP_001363360.1:p.Gln385= | NP_001363360.1:p.Gln385fs |
CUGBP Elav-like family member 1 isoform 11 | NP_001363361.1:p.Gln386= | NP_001363361.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 2 | NP_001363366.1:p.Gln383= | NP_001363366.1:p.Gln383fs |
CUGBP Elav-like family member 1 isoform 1 | NP_001363378.1:p.Gln382= | NP_001363378.1:p.Gln382fs |
CUGBP Elav-like family member 1 isoform 12 | NP_001363379.1:p.Gln381= | NP_001363379.1:p.Gln381fs |
CUGBP Elav-like family member 1 isoform X5 | XP_047282234.1:p.Gln387= | XP_047282234.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 2 | NP_001363368.1:p.Gln383= | NP_001363368.1:p.Gln383fs |
CUGBP Elav-like family member 1 isoform 14 | NP_001363381.1:p.Gln381= | NP_001363381.1:p.Gln381fs |
CUGBP Elav-like family member 1 isoform X6 | XP_047282241.1:p.Gln386= | XP_047282241.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363335.1:p.Gln387= | NP_001363335.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 16 | NP_001363383.1:p.Gln370= | NP_001363383.1:p.Gln370fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363347.1:p.Gln386= | NP_001363347.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 11 | NP_001363362.1:p.Gln386= | NP_001363362.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363328.1:p.Gln387= | NP_001363328.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 19 | NP_001363389.1:p.Gln344= | NP_001363389.1:p.Gln344fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363350.1:p.Gln386= | NP_001363350.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform X6 | XP_047282244.1:p.Gln386= | XP_047282244.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 2 | NP_001363364.1:p.Gln383= | NP_001363364.1:p.Gln383fs |
CUGBP Elav-like family member 1 isoform 1 | NP_001363373.1:p.Gln382= | NP_001363373.1:p.Gln382fs |
CUGBP Elav-like family member 1 isoform X5 | XP_047282238.1:p.Gln387= | XP_047282238.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform X6 | XP_047282245.1:p.Gln386= | XP_047282245.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform X7 | XP_047282247.1:p.Gln383= | XP_047282247.1:p.Gln383fs |
CUGBP Elav-like family member 1 isoform 20 | NP_001363390.1:p.Gln343= | NP_001363390.1:p.Gln343fs |
CUGBP Elav-like family member 1 isoform 7 | NP_001363310.1:p.Gln413= | NP_001363310.1:p.Gln413fs |
CUGBP Elav-like family member 1 isoform 6 | NP_001363304.1:p.Gln414= | NP_001363304.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform 7 | NP_001363309.1:p.Gln413= | NP_001363309.1:p.Gln413fs |
CUGBP Elav-like family member 1 isoform X3 | XP_047282231.1:p.Gln410= | XP_047282231.1:p.Gln410fs |
CUGBP Elav-like family member 1 isoform 9 | NP_001363318.1:p.Gln409= | NP_001363318.1:p.Gln409fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363351.1:p.Gln386= | NP_001363351.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363340.1:p.Gln387= | NP_001363340.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363357.1:p.Gln386= | NP_001363357.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363341.1:p.Gln387= | NP_001363341.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363336.1:p.Gln387= | NP_001363336.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 15 | NP_001363382.1:p.Gln371= | NP_001363382.1:p.Gln371fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363343.1:p.Gln387= | NP_001363343.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363353.1:p.Gln386= | NP_001363353.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 3 | NP_001363356.1:p.Gln386= | NP_001363356.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform 1 | NP_001363374.1:p.Gln382= | NP_001363374.1:p.Gln382fs |
CUGBP Elav-like family member 1 isoform X6 | XP_047282243.1:p.Gln386= | XP_047282243.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform X5 | XP_047282239.1:p.Gln387= | XP_047282239.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 20 | NP_001363391.1:p.Gln343= | NP_001363391.1:p.Gln343fs |
CUGBP Elav-like family member 1 isoform 4 | NP_001363313.1:p.Gln412= | NP_001363313.1:p.Gln412fs |
CUGBP Elav-like family member 1 isoform 9 | NP_001363316.1:p.Gln409= | NP_001363316.1:p.Gln409fs |
CUGBP Elav-like family member 1 isoform 6 | NP_001363302.1:p.Gln414= | NP_001363302.1:p.Gln414fs |
CUGBP Elav-like family member 1 isoform X2 | XP_047282229.1:p.Gln413= | XP_047282229.1:p.Gln413fs |
CUGBP Elav-like family member 1 isoform X3 | XP_047282230.1:p.Gln410= | XP_047282230.1:p.Gln410fs |
CUGBP Elav-like family member 1 isoform X4 | XP_047282232.1:p.Gln409= | XP_047282232.1:p.Gln409fs |
CUGBP Elav-like family member 1 isoform 2 | NP_001363369.1:p.Gln383= | NP_001363369.1:p.Gln383fs |
CUGBP Elav-like family member 1 isoform 10 | NP_001363337.1:p.Gln387= | NP_001363337.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform 2 | NP_001363363.1:p.Gln383= | NP_001363363.1:p.Gln383fs |
CUGBP Elav-like family member 1 isoform 22 | NP_001363376.1:p.Gln382= | NP_001363376.1:p.Gln382fs |
CUGBP Elav-like family member 1 isoform X6 | XP_047282242.1:p.Gln386= | XP_047282242.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform X8 | XP_047282249.1:p.Gln382= | XP_047282249.1:p.Gln382fs |
CUGBP Elav-like family member 1 isoform X5 | XP_047282240.1:p.Gln387= | XP_047282240.1:p.Gln387fs |
CUGBP Elav-like family member 1 isoform X6 | XP_047282246.1:p.Gln386= | XP_047282246.1:p.Gln386fs |
CUGBP Elav-like family member 1 isoform X7 | XP_047282248.1:p.Gln383= | XP_047282248.1:p.Gln383fs |
CUGBP Elav-like family member 1 isoform X8 | XP_047282250.1:p.Gln382= | XP_047282250.1:p.Gln382fs |
CUGBP Elav-like family member 1 isoform 19 | NP_001363388.1:p.Gln344= | NP_001363388.1:p.Gln344fs |
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | EVA_EXAC | ss1711969352 | Apr 01, 2015 (144) |
2 | AFFY | ss2984941418 | Nov 08, 2017 (151) |
3 | ILLUMINA | ss3653713667 | Oct 12, 2018 (152) |
4 | ExAC | NC_000011.9 - 47496920 | Oct 12, 2018 (152) |
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs767221177
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.