Canonical Allele Identifier: CA1369169919
Gene:

Linked Data

dbSNP Id: rs2041753794
gnomAD v3: 3-61428223-C-CTTTGGGAGG
gnomAD v4: 3-61428223-C-CTTTGGGAGG
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.61428223_61428224insTTTGGGAGG , CM000665.2:g.61428223_61428224insTTTGGGAGG GRCh38
NC_000003.11:g.61413897_61413898insTTTGGGAGG , CM000665.1:g.61413897_61413898insTTTGGGAGG GRCh37
NC_000003.10:g.61388937_61388938insTTTGGGAGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940892.1:n.164+290_164+291insCCTCCCAAA
XR_940893.1:n.164+290_164+291insCCTCCCAAA
XR_001740725.1:n.202+290_202+291insCCTCCCAAA
XR_940892.2:n.202+290_202+291insCCTCCCAAA
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