Canonical Allele Identifier: CA971893921

Gene: FAH

Linked Data

• dbSNP Id: rs2041058586
• gnomAD v3: 15-80152666-A-AGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAG
• gnomAD v4: 15-80152666-A-AGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152669_80152670insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG , CM000677.2:g.80152669_80152670insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG	GRCh38
NC_000015.9:g.80445011_80445012insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG , CM000677.1:g.80445011_80445012insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG	GRCh37
NC_000015.8:g.78232066_78232067insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG	NCBI36
NG_012833.1:g.4671_4672insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+124_-30+125insGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG	ENSP00000453152.1:n.-30+124_-30+125insGAGGGGCGGGGCGAGGGGAGGGG...