Canonical Allele Identifier: CA672379095

Gene: HMBS

Linked Data

• dbSNP Id: rs1488779268
• gnomAD v3: 11-119093620-GCT-G
• gnomAD v4: 11-119093620-GCT-G
• MyVariant Identifiers: chr11:g.118964331_118964332del (hg19) ; chr11:g.119093621_119093622del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093621_119093622del , CM000673.2:g.119093621_119093622del	GRCh38
NC_000011.9:g.118964331_118964332del , CM000673.1:g.118964331_118964332del	GRCh37
NC_000011.8:g.118469541_118469542del	NCBI36
NG_008093.1:g.13745_13746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*338_*339del	ENSP00000509288.1:n.*338_*339del