Canonical Allele Identifier: CA1817437261

Gene:

Linked Data

• dbSNP Id: rs1815191617
• gnomAD v3: 8-125474125-A-ATGGTATT
• gnomAD v4: 8-125474125-A-ATGGTATT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125474126_125474132dup , CM000670.2:g.125474126_125474132dup	GRCh38
NC_000008.10:g.126486368_126486374dup , CM000670.1:g.126486368_126486374dup	GRCh37
NC_000008.9:g.126555550_126555556dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+812_256+818dup