Canonical Allele Identifier: CA2629872783
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152784_80152785insTGTT , CM000677.2:g.80152784_80152785insTGTT GRCh38
NC_000015.9:g.80445126_80445127insTGTT , CM000677.1:g.80445126_80445127insTGTT GRCh37
NC_000015.8:g.78232181_78232182insTGTT NCBI36
NG_012833.1:g.4786_4787insTGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000407106.5:c.-151_-150insTGTT ENSP00000385080.1:n.-151_-150insTGTT
ENST00000558022.5:c.-30+239_-29-241insTGTT ENSP00000453152.1:n.-30+239_-29-241insTGTT