Canonical Allele Identifier: CA672379115

Gene: HMBS

Linked Data

• dbSNP Id: rs1224097797
• gnomAD v4: 11-119093642-CTCCTGGTACG-C
• MyVariant Identifiers: chr11:g.118964353_118964362del (hg19) ; chr11:g.119093643_119093652del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093647_119093656del , CM000673.2:g.119093647_119093656del	GRCh38
NC_000011.9:g.118964357_118964366del , CM000673.1:g.118964357_118964366del	GRCh37
NC_000011.8:g.118469567_118469576del	NCBI36
NG_008093.1:g.13771_13780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*364_*373del	ENSP00000509288.1:n.*364_*373del