Canonical Allele Identifier: CA2616356090

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093630-TTGCCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093631_119093636del , CM000673.2:g.119093631_119093636del	GRCh38
NC_000011.9:g.118964341_118964346del , CM000673.1:g.118964341_118964346del	GRCh37
NC_000011.8:g.118469551_118469556del	NCBI36
NG_008093.1:g.13755_13760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*348_*353del	ENSP00000509288.1:n.*348_*353del