Canonical Allele Identifier: CA2629872592

Gene: FAH

Linked Data

• gnomAD v4: 15-80152650-C-CGGGGCGAGGGGAGGGCGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152655_80152656insGAGGGGAGGGCGGGTGGGGC , CM000677.2:g.80152655_80152656insGAGGGGAGGGCGGGTGGGGC	GRCh38
NC_000015.9:g.80444997_80444998insGAGGGGAGGGCGGGTGGGGC , CM000677.1:g.80444997_80444998insGAGGGGAGGGCGGGTGGGGC	GRCh37
NC_000015.8:g.78232052_78232053insGAGGGGAGGGCGGGTGGGGC	NCBI36
NG_012833.1:g.4657_4658insGAGGGGAGGGCGGGTGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+110_-30+111insGAGGGGAGGGCGGGTGGGGC	ENSP00000453152.1:n.-30+110_-30+111insGAGGGGAGGGCGGGTGGGGC