Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584076_41584077insGTT , CM000679.2:g.41584076_41584077insGTT | GRCh38 |
| NC_000017.10:g.39740328_39740329insGTT , CM000679.1:g.39740328_39740329insGTT | GRCh37 |
| NC_000017.9:g.36993854_36993855insGTT | NCBI36 |
| NG_008624.1:g.7821_7822insCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-154_766-153insCAA MANE Select | ENSP00000167586.6:n.766-154_766-153insCAA | |
| ENST00000167586.6:c.766-154_766-153insCAA | ENSP00000167586.6:n.766-154_766-153insCAA | |
| ENST00000476662.1:n.216-154_216-153insCAA | ||
| NM_000526.4:c.766-154_766-153insCAA | NP_000517.2:n.766-154_766-153insCAA | |
| NM_000526.5:c.766-154_766-153insCAA MANE Select | NP_000517.3:n.766-154_766-153insCAA |