Canonical Allele Identifier: CA2596753452

Gene: FAH

Linked Data

• gnomAD v3: 15-80152613-A-AGGAGGGGCGAGGGGAGG
• gnomAD v4: 15-80152613-A-AGGAGGGGCGAGGGGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152615_80152616insAGGGGCGAGGGGAGGGG , CM000677.2:g.80152615_80152616insAGGGGCGAGGGGAGGGG	GRCh38
NC_000015.9:g.80444957_80444958insAGGGGCGAGGGGAGGGG , CM000677.1:g.80444957_80444958insAGGGGCGAGGGGAGGGG	GRCh37
NC_000015.8:g.78232012_78232013insAGGGGCGAGGGGAGGGG	NCBI36
NG_012833.1:g.4617_4618insAGGGGCGAGGGGAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+70_-30+71insAGGGGCGAGGGGAGGGG	ENSP00000453152.1:n.-30+70_-30+71insAGGGGCGAGGGGAGGGG