Canonical Allele Identifier: CA2629872628
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152660-G-GGGAGGGGCGGGGCGAGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152661_80152662insGAGGGGCGGGGCGAGGAG , CM000677.2:g.80152661_80152662insGAGGGGCGGGGCGAGGAG GRCh38
NC_000015.9:g.80445003_80445004insGAGGGGCGGGGCGAGGAG , CM000677.1:g.80445003_80445004insGAGGGGCGGGGCGAGGAG GRCh37
NC_000015.8:g.78232058_78232059insGAGGGGCGGGGCGAGGAG NCBI36
NG_012833.1:g.4663_4664insGAGGGGCGGGGCGAGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+116_-30+117insGAGGGGCGGGGCGAGGAG ENSP00000453152.1:n.-30+116_-30+117insGAGGGGCGGGGCGAGGAG
Search 100 bp 5'
Search 100 bp 3'