Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583200_41583201insT , CM000679.2:g.41583200_41583201insT | GRCh38 |
| NC_000017.10:g.39739452_39739453insT , CM000679.1:g.39739452_39739453insT | GRCh37 |
| NC_000017.9:g.36992978_36992979insT | NCBI36 |
| NG_008624.1:g.8695_8696insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.1274+34_1274+35insA MANE Select | ENSP00000167586.6:n.1274+34_1274+35insA | |
| ENST00000167586.6:c.1274+34_1274+35insA | ENSP00000167586.6:n.1274+34_1274+35insA | |
| ENST00000441550.2:n.221+34_221+35insA | ||
| NM_000526.4:c.1274+34_1274+35insA | NP_000517.2:n.1274+34_1274+35insA | |
| NM_000526.5:c.1274+34_1274+35insA MANE Select | NP_000517.3:n.1274+34_1274+35insA |