Canonical Allele Identifier: CA672379056

Gene: HMBS

Linked Data

• dbSNP Id: rs1250237300
• gnomAD v3: 11-119093546-GTGT-G
• gnomAD v4: 11-119093546-GTGT-G
• MyVariant Identifiers: chr11:g.118964257_118964259del (hg19) ; chr11:g.119093547_119093549del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093550_119093552del , CM000673.2:g.119093550_119093552del	GRCh38
NC_000011.9:g.118964260_118964262del , CM000673.1:g.118964260_118964262del	GRCh37
NC_000011.8:g.118469470_118469472del	NCBI36
NG_008093.1:g.13674_13676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*267_*269del	ENSP00000509288.1:n.*267_*269del