Canonical Allele Identifier: CA942571885

Gene:

Linked Data

• dbSNP Id: rs1861334891
• gnomAD v3: 11-116442624-T-TA
• gnomAD v4: 11-116442624-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116442625dup , CM000673.2:g.116442625dup	GRCh38
NC_000011.9:g.116313342dup , CM000673.1:g.116313342dup	GRCh37
NC_000011.8:g.115818552dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001748403.1:n.349+31252dup