Canonical Allele Identifier: CA2629872796
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152791_80152792insGACCACAGCGGCCGAGTTCAGTC , CM000677.2:g.80152791_80152792insGACCACAGCGGCCGAGTTCAGTC GRCh38
NC_000015.9:g.80445133_80445134insGACCACAGCGGCCGAGTTCAGTC , CM000677.1:g.80445133_80445134insGACCACAGCGGCCGAGTTCAGTC GRCh37
NC_000015.8:g.78232188_78232189insGACCACAGCGGCCGAGTTCAGTC NCBI36
NG_012833.1:g.4793_4794insGACCACAGCGGCCGAGTTCAGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000407106.5:c.-144_-143insGACCACAGCGGCCGAGTTCAGTC ENSP00000385080.1:n.-144_-143insGACCACAGCGGCCGAGTTCAGTC
ENST00000537726.5:n.3_4insGACCACAGCGGCCGAGTTCAGTC
ENST00000558022.5:c.-29-235_-29-234insGACCACAGCGGCCGAGTTCAGTC ENSP00000453152.1:n.-29-235_-29-234insGACCACAGCGGCCGAGTTCAGTC...
NM_001374377.1:c.-144_-143insGACCACAGCGGCCGAGTTCAGTC NP_001361306.1:n.-144_-143insGACCACAGCGGCCGAGTTCAGTC
NM_001374380.1:c.-80_-79insGACCACAGCGGCCGAGTTCAGTC NP_001361309.1:n.-80_-79insGACCACAGCGGCCGAGTTCAGTC