Canonical Allele Identifier: CA602168938

Gene: HMBS

Linked Data

• dbSNP Id: rs1183868398
• gnomAD v2: 11-118964274-TGGA-T
• gnomAD v3: 11-119093564-TGGA-T
• gnomAD v4: 11-119093564-TGGA-T
• MyVariant Identifiers: chr11:g.118964275_118964277del (hg19) ; chr11:g.119093565_119093567del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093566_119093568del , CM000673.2:g.119093566_119093568del	GRCh38
NC_000011.9:g.118964276_118964278del , CM000673.1:g.118964276_118964278del	GRCh37
NC_000011.8:g.118469486_118469488del	NCBI36
NG_008093.1:g.13690_13692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*283_*285del	ENSP00000509288.1:n.*283_*285del