Canonical Allele Identifier: CA2629872638
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152663-G-GGGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152665_80152666insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGATGG , CM000677.2:g.80152665_80152666insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGATGG GRCh38
NC_000015.9:g.80445007_80445008insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGATGG , CM000677.1:g.80445007_80445008insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGATGG GRCh37
NC_000015.8:g.78232062_78232063insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGATGG NCBI36
NG_012833.1:g.4667_4668insGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGATGG

Transcript Alleles

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