Canonical Allele Identifier: CA2629872567
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152634-G-GGGGCGAGGGGAGGGGCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152650_80152651insTGGGCGAGGGGAGGGGC , CM000677.2:g.80152650_80152651insTGGGCGAGGGGAGGGGC GRCh38
NC_000015.9:g.80444992_80444993insTGGGCGAGGGGAGGGGC , CM000677.1:g.80444992_80444993insTGGGCGAGGGGAGGGGC GRCh37
NC_000015.8:g.78232047_78232048insTGGGCGAGGGGAGGGGC NCBI36
NG_012833.1:g.4652_4653insTGGGCGAGGGGAGGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+105_-30+106insTGGGCGAGGGGAGGGGC ENSP00000453152.1:n.-30+105_-30+106insTGGGCGAGGGGAGGGGC
Search 100 bp 5'
Search 100 bp 3'