Canonical Allele Identifier: CA2616356041

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093608-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093610del , CM000673.2:g.119093610del	GRCh38
NC_000011.9:g.118964320del , CM000673.1:g.118964320del	GRCh37
NC_000011.8:g.118469530del	NCBI36
NG_008093.1:g.13734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*327del	ENSP00000509288.1:n.*327del