Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583127_41583130delinsGGGA , CM000679.2:g.41583127_41583130delinsGGGA | GRCh38 |
| NC_000017.10:g.39739379_39739382delinsGGGA , CM000679.1:g.39739379_39739382delinsGGGA | GRCh37 |
| NC_000017.9:g.36992905_36992908delinsGGGA | NCBI36 |
| NG_008624.1:g.8766_8769delinsTCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1285_1288delinsTCCC MANE Select | ENSP00000167586.6:p.Ser429= | |
| ENST00000167586.6:c.1285_1288delinsTCCC | ENSP00000167586.6:p.Ser429= | |
| ENST00000441550.2:n.232_235delinsTCCC | ||
| NM_000526.4:c.1285_1288delinsTCCC | NP_000517.2:p.Ser429= | |
| NM_000526.5:c.1285_1288delinsTCCC MANE Select | NP_000517.3:p.Ser429= |