Canonical Allele Identifier: CA2003794131
Gene: HMBS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093582_119093583delinsAG , CM000673.2:g.119093582_119093583delinsAG GRCh38
NC_000011.9:g.118964292_118964293delinsAG , CM000673.1:g.118964292_118964293delinsAG GRCh37
NC_000011.8:g.118469502_118469503delinsAG NCBI36
NG_008093.1:g.13706_13707delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*299_*300delinsAG ENSP00000509288.1:n.*299_*300delinsAG
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