Canonical Allele Identifier: CA1035506066

Gene:

Linked Data

• dbSNP Id: rs1678009359
• gnomAD v3: 2-118079794-A-AT
• gnomAD v4: 2-118079794-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079795dup , CM000664.2:g.118079795dup	GRCh38
NC_000002.11:g.118837371dup , CM000664.1:g.118837371dup	GRCh37
NC_000002.10:g.118553841dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512305.1:c.697-2263dup	XP_011510607.1:n.697-2263dup
XR_001739662.2:n.138+8456dup