Canonical Allele Identifier: CA971893811
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152658-A-AGGGGCGGGGCGGGGCGAG
gnomAD v4: 15-80152658-A-AGGGGCGGGGCGGGGCGAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152661_80152662insGCGGGGCGGGGCGAGGGG , CM000677.2:g.80152661_80152662insGCGGGGCGGGGCGAGGGG GRCh38
NC_000015.9:g.80445003_80445004insGCGGGGCGGGGCGAGGGG , CM000677.1:g.80445003_80445004insGCGGGGCGGGGCGAGGGG GRCh37
NC_000015.8:g.78232058_78232059insGCGGGGCGGGGCGAGGGG NCBI36
NG_012833.1:g.4663_4664insGCGGGGCGGGGCGAGGGG

Transcript Alleles

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