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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
Help

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").

Download
Study 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
Help

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.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 11 NC_000011.10:g.47475368del
GRCh37.p13 chr 11 NC_000011.9:g.47496920del
Gene: CELF1, CUGBP Elav-like family member 1 (minus strand)
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
Help

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.

Not Reported in ClinVar
Help

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
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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#.

3 SubSNP, 1 Frequency submissions
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)
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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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
605954, ss1711969352, ss2984941418, ss3653713667 NC_000011.9:47496919:T: NC_000011.10:47475367:T: (self)
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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

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

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.

Software version is: 2.0.1.post761+d5e8e07