Canonical Allele Identifier: CA2629872616

Gene: FAH

Linked Data

• gnomAD v4: 15-80152658-A-AGAGGGGAGGGGCGGGGCGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152659_80152660insAGGGGAGGGGCGGGGCGAGG , CM000677.2:g.80152659_80152660insAGGGGAGGGGCGGGGCGAGG	GRCh38
NC_000015.9:g.80445001_80445002insAGGGGAGGGGCGGGGCGAGG , CM000677.1:g.80445001_80445002insAGGGGAGGGGCGGGGCGAGG	GRCh37
NC_000015.8:g.78232056_78232057insAGGGGAGGGGCGGGGCGAGG	NCBI36
NG_012833.1:g.4661_4662insAGGGGAGGGGCGGGGCGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+114_-30+115insAGGGGAGGGGCGGGGCGAGG	ENSP00000453152.1:n.-30+114_-30+115insAGGGGAGGGGCGGGGCGAGG