Canonical Allele Identifier: CA2190327141
Gene: FAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152675_80152677delinsCTG , CM000677.2:g.80152675_80152677delinsCTG GRCh38
NC_000015.9:g.80445017_80445019delinsCTG , CM000677.1:g.80445017_80445019delinsCTG GRCh37
NC_000015.8:g.78232072_78232074delinsCTG NCBI36
NG_012833.1:g.4677_4679delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+130_-30+132delinsCTG ENSP00000453152.1:n.-30+130_-30+132delinsCTG
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