Canonical Allele Identifier: CA2596753450

Gene: FAH

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152621_80152622insTAGGGGAGGGGCGGGGC , CM000677.2:g.80152621_80152622insTAGGGGAGGGGCGGGGC	GRCh38
NC_000015.9:g.80444963_80444964insTAGGGGAGGGGCGGGGC , CM000677.1:g.80444963_80444964insTAGGGGAGGGGCGGGGC	GRCh37
NC_000015.8:g.78232018_78232019insTAGGGGAGGGGCGGGGC	NCBI36
NG_012833.1:g.4623_4624insTAGGGGAGGGGCGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+76_-30+77insTAGGGGAGGGGCGGGGC	ENSP00000453152.1:n.-30+76_-30+77insTAGGGGAGGGGCGGGGC