Canonical Allele Identifier: CA229597836

Gene: HMBS

Linked Data

• dbSNP Id: rs891816869
• gnomAD v2: 11-118964310-CTT-C
• gnomAD v3: 11-119093600-CTT-C
• gnomAD v4: 11-119093600-CTT-C
• MyVariant Identifiers: chr11:g.118964311_118964312del (hg19) ; chr11:g.119093601_119093602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093602_119093603del , CM000673.2:g.119093602_119093603del	GRCh38
NC_000011.9:g.118964312_118964313del , CM000673.1:g.118964312_118964313del	GRCh37
NC_000011.8:g.118469522_118469523del	NCBI36
NG_008093.1:g.13726_13727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*319_*320del	ENSP00000509288.1:n.*319_*320del