Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781864_94781865insACTAG , CM000672.2:g.94781864_94781865insACTAG | GRCh38 |
| NC_000010.10:g.96541621_96541622insACTAG , CM000672.1:g.96541621_96541622insACTAG | GRCh37 |
| NC_000010.9:g.96531611_96531612insACTAG | NCBI36 |
| NG_008384.2:g.24159_24160insACTAG | |
| NG_008384.3:g.24184_24185insACTAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.686_687insACTAG MANE Select | ENSP00000360372.3:p.His230LeufsTer21 | |
| ENST00000645461.1:n.1739_1740insACTAG | ||
| ENST00000371321.7:c.686_687insACTAG | ENSP00000360372.3:p.His230LeufsTer21 | |
| ENST00000464755.1:c.1449_1450insACTAG | ENSP00000483243.1:n.1449_1450insACTAG | |
| NM_000769.2:c.686_687insACTAG | NP_000760.1:p.His230LeufsTer21 | |
| NM_000769.4:c.686_687insACTAG MANE Select | NP_000760.1:p.His230LeufsTer21 |