Canonical Allele Identifier: CA2629872548
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152639_80152640insCTGGGAGGGGCGGGGCG , CM000677.2:g.80152639_80152640insCTGGGAGGGGCGGGGCG GRCh38
NC_000015.9:g.80444981_80444982insCTGGGAGGGGCGGGGCG , CM000677.1:g.80444981_80444982insCTGGGAGGGGCGGGGCG GRCh37
NC_000015.8:g.78232036_78232037insCTGGGAGGGGCGGGGCG NCBI36
NG_012833.1:g.4641_4642insCTGGGAGGGGCGGGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+94_-30+95insCTGGGAGGGGCGGGGCG ENSP00000453152.1:n.-30+94_-30+95insCTGGGAGGGGCGGGGCG