Canonical Allele Identifier: CA2804915057
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152655_80152656insGAGGGGAGGGGAGGGGC , CM000677.2:g.80152655_80152656insGAGGGGAGGGGAGGGGC GRCh38
NC_000015.9:g.80444997_80444998insGAGGGGAGGGGAGGGGC , CM000677.1:g.80444997_80444998insGAGGGGAGGGGAGGGGC GRCh37
NC_000015.8:g.78232052_78232053insGAGGGGAGGGGAGGGGC NCBI36
NG_012833.1:g.4657_4658insGAGGGGAGGGGAGGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+110_-30+111insGAGGGGAGGGGAGGGGC ENSP00000453152.1:n.-30+110_-30+111insGAGGGGAGGGGAGGGGC