Canonical Allele Identifier: CA2596753470

Gene: FAH

Linked Data

• gnomAD v3: 15-80152658-A-AGGGGGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAG
• gnomAD v4: 15-80152658-A-AGGGGGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152661_80152662insGGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG , CM000677.2:g.80152661_80152662insGGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG	GRCh38
NC_000015.9:g.80445003_80445004insGGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG , CM000677.1:g.80445003_80445004insGGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG	GRCh37
NC_000015.8:g.78232058_78232059insGGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG	NCBI36
NG_012833.1:g.4663_4664insGGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+116_-30+117insGGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG	ENSP00000453152.1:n.-30+116_-30+117insGGGGGCGGGGCGAGGGGAGGGGC...