Canonical Allele Identifier: CA2629872535
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152628_80152629insAGGGCGGGGCGAGGGGA , CM000677.2:g.80152628_80152629insAGGGCGGGGCGAGGGGA GRCh38
NC_000015.9:g.80444970_80444971insAGGGCGGGGCGAGGGGA , CM000677.1:g.80444970_80444971insAGGGCGGGGCGAGGGGA GRCh37
NC_000015.8:g.78232025_78232026insAGGGCGGGGCGAGGGGA NCBI36
NG_012833.1:g.4630_4631insAGGGCGGGGCGAGGGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+83_-30+84insAGGGCGGGGCGAGGGGA ENSP00000453152.1:n.-30+83_-30+84insAGGGCGGGGCGAGGGGA