Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584059_41584060insCAGG , CM000679.2:g.41584059_41584060insCAGG | GRCh38 |
| NC_000017.10:g.39740311_39740312insCAGG , CM000679.1:g.39740311_39740312insCAGG | GRCh37 |
| NC_000017.9:g.36993837_36993838insCAGG | NCBI36 |
| NG_008624.1:g.7836_7837insCCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-139_766-138insCCTG MANE Select | ENSP00000167586.6:n.766-139_766-138insCCTG | |
| ENST00000167586.6:c.766-139_766-138insCCTG | ENSP00000167586.6:n.766-139_766-138insCCTG | |
| ENST00000476662.1:n.216-139_216-138insCCTG | ||
| NM_000526.4:c.766-139_766-138insCCTG | NP_000517.2:n.766-139_766-138insCCTG | |
| NM_000526.5:c.766-139_766-138insCCTG MANE Select | NP_000517.3:n.766-139_766-138insCCTG |