Canonical Allele Identifier: CA2190326902

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152613_80152630delinsAGGCGGGGCGAGGGGAGG , CM000677.2:g.80152613_80152630delinsAGGCGGGGCGAGGGGAGG	GRCh38
NC_000015.9:g.80444955_80444972delinsAGGCGGGGCGAGGGGAGG , CM000677.1:g.80444955_80444972delinsAGGCGGGGCGAGGGGAGG	GRCh37
NC_000015.8:g.78232010_78232027delinsAGGCGGGGCGAGGGGAGG	NCBI36
NG_012833.1:g.4615_4632delinsAGGCGGGGCGAGGGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+68_-30+85delinsAGGCGGGGCGAGGGGAGG	ENSP00000453152.1:n.-30+68_-30+85delinsAGGCGGGGCGAGGGGAGG