Canonical Allele Identifier: CA2804915064

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152661_80152662insGAGGGGAGGGGCGAGGGG , CM000677.2:g.80152661_80152662insGAGGGGAGGGGCGAGGGG	GRCh38
NC_000015.9:g.80445003_80445004insGAGGGGAGGGGCGAGGGG , CM000677.1:g.80445003_80445004insGAGGGGAGGGGCGAGGGG	GRCh37
NC_000015.8:g.78232058_78232059insGAGGGGAGGGGCGAGGGG	NCBI36
NG_012833.1:g.4663_4664insGAGGGGAGGGGCGAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+116_-30+117insGAGGGGAGGGGCGAGGGG	ENSP00000453152.1:n.-30+116_-30+117insGAGGGGAGGGGCGAGGGG