Canonical Allele Identifier: CA2190326564
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152502_80152512delinsGGGCTCGGGGA , CM000677.2:g.80152502_80152512delinsGGGCTCGGGGA GRCh38
NC_000015.9:g.80444844_80444854delinsGGGCTCGGGGA , CM000677.1:g.80444844_80444854delinsGGGCTCGGGGA GRCh37
NC_000015.8:g.78231899_78231909delinsGGGCTCGGGGA NCBI36
NG_012833.1:g.4504_4514delinsGGGCTCGGGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-73_-63delinsGGGCTCGGGGA ENSP00000453152.1:n.-73_-63delinsGGGCTCGGGGA