Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583206_41583207insA , CM000679.2:g.41583206_41583207insA | GRCh38 |
| NC_000017.10:g.39739458_39739459insA , CM000679.1:g.39739458_39739459insA | GRCh37 |
| NC_000017.9:g.36992984_36992985insA | NCBI36 |
| NG_008624.1:g.8689_8690insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1274+28_1274+29insT MANE Select | ENSP00000167586.6:n.1274+28_1274+29insT | |
| ENST00000167586.6:c.1274+28_1274+29insT | ENSP00000167586.6:n.1274+28_1274+29insT | |
| ENST00000441550.2:n.221+28_221+29insT | ||
| NM_000526.4:c.1274+28_1274+29insT | NP_000517.2:n.1274+28_1274+29insT | |
| NM_000526.5:c.1274+28_1274+29insT MANE Select | NP_000517.3:n.1274+28_1274+29insT |