Canonical Allele Identifier: CA1049416356

Gene:

Linked Data

• dbSNP Id: rs56217453
• gnomAD v3: 3-72266819-A-AACACACACACACACACACACACACACACACACACACAC
• gnomAD v4: 3-72266819-A-AACACACACACACACACACACACACACACACACACACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.72266834_72266871dup , CM000665.2:g.72266834_72266871dup	GRCh38
NC_000003.11:g.72315985_72316022dup , CM000665.1:g.72315985_72316022dup	GRCh37
NC_000003.10:g.72398675_72398712dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940958.1:n.835+8251_835+8288dup