Canonical Allele Identifier: CA2604450420

Gene:

Linked Data

• dbSNP Id: rs1554650375
• gnomAD v3: 8-125478763-A-AT
• gnomAD v4: 8-125478763-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478769dup , CM000670.2:g.125478769dup	GRCh38
NC_000008.10:g.126491011dup , CM000670.1:g.126491011dup	GRCh37
NC_000008.9:g.126560193dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5455dup