Canonical Allele Identifier: CA1118845338

Gene:

Linked Data

• dbSNP Id: rs1812780436
• gnomAD v3: 8-125478667-AAAAG-A
• gnomAD v4: 8-125478667-AAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478670_125478673del , CM000670.2:g.125478670_125478673del	GRCh38
NC_000008.10:g.126490912_126490915del , CM000670.1:g.126490912_126490915del	GRCh37
NC_000008.9:g.126560094_126560097del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5356_256+5359del