Canonical Allele Identifier: CA2616355988

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093579-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093580del , CM000673.2:g.119093580del	GRCh38
NC_000011.9:g.118964290del , CM000673.1:g.118964290del	GRCh37
NC_000011.8:g.118469500del	NCBI36
NG_008093.1:g.13704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*297del	ENSP00000509288.1:n.*297del