Canonical Allele Identifier: CA2507261879
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152665_80152666insGCGGGGCGAGAGG , CM000677.2:g.80152665_80152666insGCGGGGCGAGAGG GRCh38
NC_000015.9:g.80445007_80445008insGCGGGGCGAGAGG , CM000677.1:g.80445007_80445008insGCGGGGCGAGAGG GRCh37
NC_000015.8:g.78232062_78232063insGCGGGGCGAGAGG NCBI36
NG_012833.1:g.4667_4668insGCGGGGCGAGAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+120_-30+121insGCGGGGCGAGAGG ENSP00000453152.1:n.-30+120_-30+121insGCGGGGCGAGAGG