Canonical Allele Identifier: CA2003794151
Gene: HMBS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093600_119093602delinsCTT , CM000673.2:g.119093600_119093602delinsCTT GRCh38
NC_000011.9:g.118964310_118964312delinsCTT , CM000673.1:g.118964310_118964312delinsCTT GRCh37
NC_000011.8:g.118469520_118469522delinsCTT NCBI36
NG_008093.1:g.13724_13726delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*317_*319delinsCTT ENSP00000509288.1:n.*317_*319delinsCTT
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