Canonical Allele Identifier: CA2804915043
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152627_80152628insGGGGGCGGGGCGGGGGG , CM000677.2:g.80152627_80152628insGGGGGCGGGGCGGGGGG GRCh38
NC_000015.9:g.80444969_80444970insGGGGGCGGGGCGGGGGG , CM000677.1:g.80444969_80444970insGGGGGCGGGGCGGGGGG GRCh37
NC_000015.8:g.78232024_78232025insGGGGGCGGGGCGGGGGG NCBI36
NG_012833.1:g.4629_4630insGGGGGCGGGGCGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+82_-30+83insGGGGGCGGGGCGGGGGG ENSP00000453152.1:n.-30+82_-30+83insGGGGGCGGGGCGGGGGG