Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123571_72123572insCCCCCCCCCCCA , CM000679.2:g.72123571_72123572insCCCCCCCCCCCA | GRCh38 |
| NC_000017.10:g.70119712_70119713insCCCCCCCCCCCA , CM000679.1:g.70119712_70119713insCCCCCCCCCCCA | GRCh37 |
| NC_000017.9:g.67631307_67631308insCCCCCCCCCCCA | NCBI36 |
| NG_012490.1:g.7552_7553insCCCCCCCCCCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.714_715insCCCCCCCCCCCA MANE Select | ENSP00000245479.2:p.Pro238_Thr239insProProProPro | |
| ENST00000245479.2:c.714_715insCCCCCCCCCCCA | ENSP00000245479.2:p.Pro238_Thr239insProProProPro | |
| NM_000346.3:c.714_715insCCCCCCCCCCCA | NP_000337.1:p.Pro238_Thr239insProProProPro | |
| NM_000346.4:c.714_715insCCCCCCCCCCCA MANE Select | NP_000337.1:p.Pro238_Thr239insProProProPro |