Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586818_41586819insAG , CM000679.2:g.41586818_41586819insAG | GRCh38 |
| NC_000017.10:g.39743070_39743071insAG , CM000679.1:g.39743070_39743071insAG | GRCh37 |
| NC_000017.9:g.36996596_36996597insAG | NCBI36 |
| NG_008624.1:g.5077_5078insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.16_17insCT MANE Select | ENSP00000167586.6:p.Arg6ProfsTer10 | |
| ENST00000167586.6:c.16_17insCT | ENSP00000167586.6:p.Arg6ProfsTer10 | |
| NM_000526.4:c.16_17insCT | NP_000517.2:p.Arg6ProfsTer10 | |
| NM_000526.5:c.16_17insCT MANE Select | NP_000517.3:p.Arg6ProfsTer10 |