Canonical Allele Identifier: CA1689218118

Gene:

Linked Data

• dbSNP Id: rs1783118596
• gnomAD v3: 7-13400588-A-AG
• gnomAD v4: 7-13400588-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13400589dup , CM000669.2:g.13400589dup	GRCh38
NC_000007.13:g.13440214dup , CM000669.1:g.13440214dup	GRCh37
NC_000007.12:g.13406739dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.147+90266dup