Canonical Allele Identifier: CA2804915036

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152634_80152635insAGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCG , CM000677.2:g.80152634_80152635insAGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCG	GRCh38
NC_000015.9:g.80444976_80444977insAGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCG , CM000677.1:g.80444976_80444977insAGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCG	GRCh37
NC_000015.8:g.78232031_78232032insAGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCG	NCBI36
NG_012833.1:g.4636_4637insAGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+89_-30+90insAGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCG	ENSP00000453152.1:n.-30+89_-30+90insAGGCGAGGGGAGGGGCGGGGCGAGG...