Canonical Allele Identifier: CA1111626476

Gene:

Linked Data

• dbSNP Id: rs1799795996
• gnomAD v3: 8-20734912-GC-G
• gnomAD v4: 8-20734912-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20734913del , CM000670.2:g.20734913del	GRCh38
NC_000008.10:g.20592424del , CM000670.1:g.20592424del	GRCh37
NC_000008.9:g.20636704del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949569.3:n.72-55533del