Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123562_72123563insCCCCCCCCCCCC , CM000679.2:g.72123562_72123563insCCCCCCCCCCCC | GRCh38 |
| NC_000017.10:g.70119703_70119704insCCCCCCCCCCCC , CM000679.1:g.70119703_70119704insCCCCCCCCCCCC | GRCh37 |
| NC_000017.9:g.67631298_67631299insCCCCCCCCCCCC | NCBI36 |
| NG_012490.1:g.7543_7544insCCCCCCCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.705_706insCCCCCCCCCCCC MANE Select | ENSP00000245479.2:p.Pro235_Thr236insProProProPro | |
| ENST00000245479.2:c.705_706insCCCCCCCCCCCC | ENSP00000245479.2:p.Pro235_Thr236insProProProPro | |
| NM_000346.3:c.705_706insCCCCCCCCCCCC | NP_000337.1:p.Pro235_Thr236insProProProPro | |
| NM_000346.4:c.705_706insCCCCCCCCCCCC MANE Select | NP_000337.1:p.Pro235_Thr236insProProProPro |