Canonical Allele Identifier: CA803406354

Gene:

Linked Data

• dbSNP Id: rs1345889763
• gnomAD v3: 5-126002720-A-AG
• gnomAD v4: 5-126002720-A-AG
• MyVariant Identifiers: chr5:g.125338413_125338414insG (hg19) ; chr5:g.126002720_126002721insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126002721dup , CM000667.2:g.126002721dup	GRCh38
NC_000005.9:g.125338414dup , CM000667.1:g.125338414dup	GRCh37
NC_000005.8:g.125366313dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948737.1:n.565+3619dup
XR_948738.1:n.497+5819dup