Canonical Allele Identifier: CA1057687608
Gene:

Linked Data

dbSNP Id: rs1715912421
gnomAD v3: 3-190286425-C-CT
gnomAD v4: 3-190286425-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190286428dup , CM000665.2:g.190286428dup GRCh38
NC_000003.11:g.190004217dup , CM000665.1:g.190004217dup GRCh37
NC_000003.10:g.191486911dup NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001741069.1:n.89-4050dup
Search 100 bp 5'
Search 100 bp 3'