Canonical Allele Identifier: CA602168943

Gene: HMBS

Linked Data

• dbSNP Id: rs1453627395
• gnomAD v2: 11-118964326-A-AT
• gnomAD v3: 11-119093616-A-AT
• gnomAD v4: 11-119093616-A-AT
• MyVariant Identifiers: chr11:g.118964326_118964327insT (hg19) ; chr11:g.119093616_119093617insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093616_119093617insT , CM000673.2:g.119093616_119093617insT	GRCh38
NC_000011.9:g.118964326_118964327insT , CM000673.1:g.118964326_118964327insT	GRCh37
NC_000011.8:g.118469536_118469537insT	NCBI36
NG_008093.1:g.13740_13741insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*333_*334insT	ENSP00000509288.1:n.*333_*334insT