Canonical Allele Identifier: CA2804915067
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152665_80152666insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGCGAGGGGGGGG , CM000677.2:g.80152665_80152666insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGCGAGGGGGGGG GRCh38
NC_000015.9:g.80445007_80445008insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGCGAGGGGGGGG , CM000677.1:g.80445007_80445008insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGCGAGGGGGGGG GRCh37
NC_000015.8:g.78232062_78232063insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGCGAGGGGGGGG NCBI36
NG_012833.1:g.4667_4668insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGCGAGGGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+120_-30+121insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGCGAGGGGGGGG ENSP00000453152.1:n.-30+120_-30+121insGCGGGGCGAGGGGAGGGGCGGGG...