Canonical Allele Identifier: CA2804915099
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152720_80152721insTGGAGTGGAGT , CM000677.2:g.80152720_80152721insTGGAGTGGAGT GRCh38
NC_000015.9:g.80445062_80445063insTGGAGTGGAGT , CM000677.1:g.80445062_80445063insTGGAGTGGAGT GRCh37
NC_000015.8:g.78232117_78232118insTGGAGTGGAGT NCBI36
NG_012833.1:g.4722_4723insTGGAGTGGAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+175_-30+176insTGGAGTGGAGT ENSP00000453152.1:n.-30+175_-30+176insTGGAGTGGAGT