Canonical Allele Identifier: CA2629872618
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152658-A-AGGGGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152661_80152662insGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG , CM000677.2:g.80152661_80152662insGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG GRCh38
NC_000015.9:g.80445003_80445004insGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG , CM000677.1:g.80445003_80445004insGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG GRCh37
NC_000015.8:g.78232058_78232059insGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG NCBI36
NG_012833.1:g.4663_4664insGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+116_-30+117insGAGGGGCGGGGCGAGGGGGGGGGCGGGGCGAGGGG ENSP00000453152.1:n.-30+116_-30+117insGAGGGGCGGGGCGAGGGGGGGGG...
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