Canonical Allele Identifier: CA2003794179
Gene: HMBS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093620_119093622delinsGCT , CM000673.2:g.119093620_119093622delinsGCT GRCh38
NC_000011.9:g.118964330_118964332delinsGCT , CM000673.1:g.118964330_118964332delinsGCT GRCh37
NC_000011.8:g.118469540_118469542delinsGCT NCBI36
NG_008093.1:g.13744_13746delinsGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*337_*339delinsGCT ENSP00000509288.1:n.*337_*339delinsGCT
Search 100 bp 5'
Search 100 bp 3'