Canonical Allele Identifier: CA2003794141
Gene: HMBS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093589_119093591delinsAAC , CM000673.2:g.119093589_119093591delinsAAC GRCh38
NC_000011.9:g.118964299_118964301delinsAAC , CM000673.1:g.118964299_118964301delinsAAC GRCh37
NC_000011.8:g.118469509_118469511delinsAAC NCBI36
NG_008093.1:g.13713_13715delinsAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*306_*308delinsAAC ENSP00000509288.1:n.*306_*308delinsAAC
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