Canonical Allele Identifier: CA2804915035
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152640_80152641insTGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGA , CM000677.2:g.80152640_80152641insTGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGA GRCh38
NC_000015.9:g.80444982_80444983insTGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGA , CM000677.1:g.80444982_80444983insTGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGA GRCh37
NC_000015.8:g.78232037_78232038insTGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGA NCBI36
NG_012833.1:g.4642_4643insTGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+95_-30+96insTGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCGA ENSP00000453152.1:n.-30+95_-30+96insTGGGAGGGGCGGGGCGAGGGGAGGG...