Canonical Allele Identifier: CA2616355938
Gene: HMBS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093560_119093561del , CM000673.2:g.119093560_119093561del GRCh38
NC_000011.9:g.118964270_118964271del , CM000673.1:g.118964270_118964271del GRCh37
NC_000011.8:g.118469480_118469481del NCBI36
NG_008093.1:g.13684_13685del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*277_*278del ENSP00000509288.1:n.*277_*278del