Canonical Allele Identifier: CA971893644
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152623-A-AGGGGAGGGGCGGGGCGG
gnomAD v4: 15-80152623-A-AGGGGAGGGGCGGGGCGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152639_80152640insGGGGGAGGGGCGGGGCG , CM000677.2:g.80152639_80152640insGGGGGAGGGGCGGGGCG GRCh38
NC_000015.9:g.80444981_80444982insGGGGGAGGGGCGGGGCG , CM000677.1:g.80444981_80444982insGGGGGAGGGGCGGGGCG GRCh37
NC_000015.8:g.78232036_78232037insGGGGGAGGGGCGGGGCG NCBI36
NG_012833.1:g.4641_4642insGGGGGAGGGGCGGGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+94_-30+95insGGGGGAGGGGCGGGGCG ENSP00000453152.1:n.-30+94_-30+95insGGGGGAGGGGCGGGGCG
Search 100 bp 5'
Search 100 bp 3'