Canonical Allele Identifier: CA2003794096
Gene: HMBS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093564_119093567delinsTGGA , CM000673.2:g.119093564_119093567delinsTGGA GRCh38
NC_000011.9:g.118964274_118964277delinsTGGA , CM000673.1:g.118964274_118964277delinsTGGA GRCh37
NC_000011.8:g.118469484_118469487delinsTGGA NCBI36
NG_008093.1:g.13688_13691delinsTGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*281_*284delinsTGGA ENSP00000509288.1:n.*281_*284delinsTGGA
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