Canonical Allele Identifier: CA2629872603
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152655-C-CGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152655_80152656insGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGG , CM000677.2:g.80152655_80152656insGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGG GRCh38
NC_000015.9:g.80444997_80444998insGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGG , CM000677.1:g.80444997_80444998insGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGG GRCh37
NC_000015.8:g.78232052_78232053insGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGG NCBI36
NG_012833.1:g.4657_4658insGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+110_-30+111insGAGGGGAGGGGCGGGGCGAGGGGGGGGGGGG ENSP00000453152.1:n.-30+110_-30+111insGAGGGGAGGGGCGGGGCGAGGGG...
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