Canonical Allele Identifier: CA2190326748
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152562_80152563delinsAG , CM000677.2:g.80152562_80152563delinsAG GRCh38
NC_000015.9:g.80444904_80444905delinsAG , CM000677.1:g.80444904_80444905delinsAG GRCh37
NC_000015.8:g.78231959_78231960delinsAG NCBI36
NG_012833.1:g.4564_4565delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+17_-30+18delinsAG ENSP00000453152.1:n.-30+17_-30+18delinsAG