Canonical Allele Identifier: CA602168940

Gene: HMBS

Linked Data

• dbSNP Id: rs1397044260
• gnomAD v2: 11-118964292-AG-A
• gnomAD v4: 11-119093582-AG-A
• MyVariant Identifiers: chr11:g.118964293del (hg19) ; chr11:g.119093583del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093584del , CM000673.2:g.119093584del	GRCh38
NC_000011.9:g.118964294del , CM000673.1:g.118964294del	GRCh37
NC_000011.8:g.118469504del	NCBI36
NG_008093.1:g.13708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*301del	ENSP00000509288.1:n.*301del