Canonical Allele Identifier: CA2190326802
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152583_80152584delinsAG , CM000677.2:g.80152583_80152584delinsAG GRCh38
NC_000015.9:g.80444925_80444926delinsAG , CM000677.1:g.80444925_80444926delinsAG GRCh37
NC_000015.8:g.78231980_78231981delinsAG NCBI36
NG_012833.1:g.4585_4586delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+38_-30+39delinsAG ENSP00000453152.1:n.-30+38_-30+39delinsAG