Canonical Allele Identifier: CA2616355928
Gene: HMBS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093556_119093557del , CM000673.2:g.119093556_119093557del GRCh38
NC_000011.9:g.118964266_118964267del , CM000673.1:g.118964266_118964267del GRCh37
NC_000011.8:g.118469476_118469477del NCBI36
NG_008093.1:g.13680_13681del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*273_*274del ENSP00000509288.1:n.*273_*274del