Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123567_72123568insCCCCCCCCC , CM000679.2:g.72123567_72123568insCCCCCCCCC | GRCh38 |
| NC_000017.10:g.70119708_70119709insCCCCCCCCC , CM000679.1:g.70119708_70119709insCCCCCCCCC | GRCh37 |
| NC_000017.9:g.67631303_67631304insCCCCCCCCC | NCBI36 |
| NG_012490.1:g.7548_7549insCCCCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.710_711insCCCCCCCCC MANE Select | ENSP00000245479.2:p.Pro237_Pro238insProProPro | |
| ENST00000245479.2:c.710_711insCCCCCCCCC | ENSP00000245479.2:p.Pro237_Pro238insProProPro | |
| NM_000346.3:c.710_711insCCCCCCCCC | NP_000337.1:p.Pro237_Pro238insProProPro | |
| NM_000346.4:c.710_711insCCCCCCCCC MANE Select | NP_000337.1:p.Pro237_Pro238insProProPro |