Canonical Allele Identifier: CA1118991891

Gene:

Linked Data

• dbSNP Id: rs1814937419
• gnomAD v3: 8-126999585-GA-G
• gnomAD v4: 8-126999585-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999588del , CM000670.2:g.126999588del	GRCh38
NC_000008.10:g.128011833del , CM000670.1:g.128011833del	GRCh37
NC_000008.9:g.128081015del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-6967del