Canonical Allele Identifier: CA2793833186
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093564_119093565insTTGGGG , CM000673.2:g.119093564_119093565insTTGGGG GRCh38
NC_000011.9:g.118964274_118964275insTTGGGG , CM000673.1:g.118964274_118964275insTTGGGG GRCh37
NC_000011.8:g.118469484_118469485insTTGGGG NCBI36
NG_008093.1:g.13688_13689insTTGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*281_*282insTTGGGG ENSP00000509288.1:n.*281_*282insTTGGGG