Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631231_4631234delinsTAAC , CM000679.2:g.4631231_4631234delinsTAAC | GRCh38 |
| NC_000017.10:g.4534526_4534529delinsTAAC , CM000679.1:g.4534526_4534529delinsTAAC | GRCh37 |
| NC_000017.9:g.4481275_4481278delinsTAAC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.*366_*369delinsGTTA MANE Select | ENSP00000293761.3:n.*366_*369delinsGTTA | |
| ENST00000293761.7:c.*366_*369delinsGTTA | ENSP00000293761.3:n.*366_*369delinsGTTA | |
| ENST00000570836.5:c.*366_*369delinsGTTA | ENSP00000458832.1:n.*366_*369delinsGTTA | |
| NM_001140.3:c.*366_*369delinsGTTA | NP_001131.3:n.*366_*369delinsGTTA | |
| NM_001140.4:c.*366_*369delinsGTTA | NP_001131.3:n.*366_*369delinsGTTA | |
| NM_001140.5:c.*366_*369delinsGTTA MANE Select | NP_001131.3:n.*366_*369delinsGTTA |