Canonical Allele Identifier: CA2804915066

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152665_80152666insGCGGGGCGAGGGGTGGG , CM000677.2:g.80152665_80152666insGCGGGGCGAGGGGTGGG	GRCh38
NC_000015.9:g.80445007_80445008insGCGGGGCGAGGGGTGGG , CM000677.1:g.80445007_80445008insGCGGGGCGAGGGGTGGG	GRCh37
NC_000015.8:g.78232062_78232063insGCGGGGCGAGGGGTGGG	NCBI36
NG_012833.1:g.4667_4668insGCGGGGCGAGGGGTGGG

Transcript Alleles

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