Canonical Allele Identifier: CA2629872554

Gene: FAH

Linked Data

• gnomAD v4: 15-80152630-G-GGGCGGGGCGAGGGGAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152646_80152647insAGGCGGGGCGAGGGGAG , CM000677.2:g.80152646_80152647insAGGCGGGGCGAGGGGAG	GRCh38
NC_000015.9:g.80444988_80444989insAGGCGGGGCGAGGGGAG , CM000677.1:g.80444988_80444989insAGGCGGGGCGAGGGGAG	GRCh37
NC_000015.8:g.78232043_78232044insAGGCGGGGCGAGGGGAG	NCBI36
NG_012833.1:g.4648_4649insAGGCGGGGCGAGGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+101_-30+102insAGGCGGGGCGAGGGGAG	ENSP00000453152.1:n.-30+101_-30+102insAGGCGGGGCGAGGGGAG