Canonical Allele Identifier: CA2629872636
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152662-A-AGGGGCGGGGCGAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152665_80152666insGCGGGGCGAGGGG , CM000677.2:g.80152665_80152666insGCGGGGCGAGGGG GRCh38
NC_000015.9:g.80445007_80445008insGCGGGGCGAGGGG , CM000677.1:g.80445007_80445008insGCGGGGCGAGGGG GRCh37
NC_000015.8:g.78232062_78232063insGCGGGGCGAGGGG NCBI36
NG_012833.1:g.4667_4668insGCGGGGCGAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+120_-30+121insGCGGGGCGAGGGG ENSP00000453152.1:n.-30+120_-30+121insGCGGGGCGAGGGG
Search 100 bp 5'
Search 100 bp 3'