Canonical Allele Identifier: CA2793833183
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093555del , CM000673.2:g.119093555del GRCh38
NC_000011.9:g.118964265del , CM000673.1:g.118964265del GRCh37
NC_000011.8:g.118469475del NCBI36
NG_008093.1:g.13679del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*272del ENSP00000509288.1:n.*272del