Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583199_41583200insA , CM000679.2:g.41583199_41583200insA | GRCh38 |
| NC_000017.10:g.39739451_39739452insA , CM000679.1:g.39739451_39739452insA | GRCh37 |
| NC_000017.9:g.36992977_36992978insA | NCBI36 |
| NG_008624.1:g.8696_8697insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.1274+35_1274+36insT MANE Select | ENSP00000167586.6:n.1274+35_1274+36insT | |
| ENST00000167586.6:c.1274+35_1274+36insT | ENSP00000167586.6:n.1274+35_1274+36insT | |
| ENST00000441550.2:n.221+35_221+36insT | ||
| NM_000526.4:c.1274+35_1274+36insT | NP_000517.2:n.1274+35_1274+36insT | |
| NM_000526.5:c.1274+35_1274+36insT MANE Select | NP_000517.3:n.1274+35_1274+36insT |