Canonical Allele Identifier: CA2596753480
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2142086305
gnomAD v3: 15-80152662-A-AGGGGCGGGGCGAGGGGC
gnomAD v4: 15-80152662-A-AGGGGCGGGGCGAGGGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152665_80152666insGCGGGGCGAGGGGCGGG , CM000677.2:g.80152665_80152666insGCGGGGCGAGGGGCGGG GRCh38
NC_000015.9:g.80445007_80445008insGCGGGGCGAGGGGCGGG , CM000677.1:g.80445007_80445008insGCGGGGCGAGGGGCGGG GRCh37
NC_000015.8:g.78232062_78232063insGCGGGGCGAGGGGCGGG NCBI36
NG_012833.1:g.4667_4668insGCGGGGCGAGGGGCGGG

Transcript Alleles

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