Canonical Allele Identifier: CA672379071

Gene: HMBS

Linked Data

• dbSNP Id: rs1159849745
• gnomAD v3: 11-119093589-AAC-A
• gnomAD v4: 11-119093589-AAC-A
• MyVariant Identifiers: chr11:g.118964300_118964301del (hg19) ; chr11:g.119093590_119093591del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093593_119093594del , CM000673.2:g.119093593_119093594del	GRCh38
NC_000011.9:g.118964303_118964304del , CM000673.1:g.118964303_118964304del	GRCh37
NC_000011.8:g.118469513_118469514del	NCBI36
NG_008093.1:g.13717_13718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*310_*311del	ENSP00000509288.1:n.*310_*311del