Canonical Allele Identifier: CA2190327137
Gene: FAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152673_80152675delinsGAC , CM000677.2:g.80152673_80152675delinsGAC GRCh38
NC_000015.9:g.80445015_80445017delinsGAC , CM000677.1:g.80445015_80445017delinsGAC GRCh37
NC_000015.8:g.78232070_78232072delinsGAC NCBI36
NG_012833.1:g.4675_4677delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+128_-30+130delinsGAC ENSP00000453152.1:n.-30+128_-30+130delinsGAC
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