Canonical Allele Identifier: CA2629872538

Gene: FAH

Linked Data

• gnomAD v4: 15-80152613-A-AGGCGGGGCGAGGGGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152629_80152630insCGGCGGGGCGAGGGGAG , CM000677.2:g.80152629_80152630insCGGCGGGGCGAGGGGAG	GRCh38
NC_000015.9:g.80444971_80444972insCGGCGGGGCGAGGGGAG , CM000677.1:g.80444971_80444972insCGGCGGGGCGAGGGGAG	GRCh37
NC_000015.8:g.78232026_78232027insCGGCGGGGCGAGGGGAG	NCBI36
NG_012833.1:g.4631_4632insCGGCGGGGCGAGGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+84_-30+85insCGGCGGGGCGAGGGGAG	ENSP00000453152.1:n.-30+84_-30+85insCGGCGGGGCGAGGGGAG