Canonical Allele Identifier: CA77246673

Gene:

Linked Data

• dbSNP Id: rs56217453
• gnomAD v2: 3-72315970-A-AAC
• gnomAD v3: 3-72266819-A-AAC
• gnomAD v4: 3-72266819-A-AAC
• MyVariant Identifiers: chr3:g.72315986_72315987insAC (hg19) ; chr3:g.72315970_72315971insAC (hg19) ; chr3:g.72266835_72266836insAC (hg38) ; chr3:g.72266819_72266820insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.72266870_72266871dup , CM000665.2:g.72266870_72266871dup	GRCh38
NC_000003.11:g.72316021_72316022dup , CM000665.1:g.72316021_72316022dup	GRCh37
NC_000003.10:g.72398711_72398712dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940958.1:n.835+8287_835+8288dup