Canonical Allele Identifier: CA971893598

Gene: FAH

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152626_80152627insTAGGGGCGGGGCGAGGG , CM000677.2:g.80152626_80152627insTAGGGGCGGGGCGAGGG	GRCh38
NC_000015.9:g.80444968_80444969insTAGGGGCGGGGCGAGGG , CM000677.1:g.80444968_80444969insTAGGGGCGGGGCGAGGG	GRCh37
NC_000015.8:g.78232023_78232024insTAGGGGCGGGGCGAGGG	NCBI36
NG_012833.1:g.4628_4629insTAGGGGCGGGGCGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+81_-30+82insTAGGGGCGGGGCGAGGG	ENSP00000453152.1:n.-30+81_-30+82insTAGGGGCGGGGCGAGGG