Canonical Allele Identifier: CA2804915030
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152606_80152607insAC , CM000677.2:g.80152606_80152607insAC GRCh38
NC_000015.9:g.80444948_80444949insAC , CM000677.1:g.80444948_80444949insAC GRCh37
NC_000015.8:g.78232003_78232004insAC NCBI36
NG_012833.1:g.4608_4609insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+61_-30+62insAC ENSP00000453152.1:n.-30+61_-30+62insAC