Canonical Allele Identifier: CA2616356118

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093653-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093655dup , CM000673.2:g.119093655dup	GRCh38
NC_000011.9:g.118964365dup , CM000673.1:g.118964365dup	GRCh37
NC_000011.8:g.118469575dup	NCBI36
NG_008093.1:g.13779dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*372dup	ENSP00000509288.1:n.*372dup