Canonical Allele Identifier: CA971893845

Gene: FAH

Linked Data

• dbSNP Id: rs2041058330
• gnomAD v3: 15-80152658-A-AGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAG
• gnomAD v4: 15-80152658-A-AGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152661_80152662insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG , CM000677.2:g.80152661_80152662insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG	GRCh38
NC_000015.9:g.80445003_80445004insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG , CM000677.1:g.80445003_80445004insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG	GRCh37
NC_000015.8:g.78232058_78232059insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG	NCBI36
NG_012833.1:g.4663_4664insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGG

Transcript Alleles

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