Canonical Allele Identifier: CA971893643
Gene: FAH HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152639_80152640insCGGGGAGGGGCGGGGCG , CM000677.2:g.80152639_80152640insCGGGGAGGGGCGGGGCG GRCh38
NC_000015.9:g.80444981_80444982insCGGGGAGGGGCGGGGCG , CM000677.1:g.80444981_80444982insCGGGGAGGGGCGGGGCG GRCh37
NC_000015.8:g.78232036_78232037insCGGGGAGGGGCGGGGCG NCBI36
NG_012833.1:g.4641_4642insCGGGGAGGGGCGGGGCG

Transcript Alleles

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