Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2298618_2298623del , CM000678.2:g.2298618_2298623del | GRCh38 |
| NC_000016.9:g.2348619_2348624del , CM000678.1:g.2348619_2348624del | GRCh37 |
| NC_000016.8:g.2288620_2288625del | NCBI36 |
| NG_011790.1:g.47124_47129del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.1742-83_1742-78del MANE Select | NP_001080.2:n.1742-83_1742-78del |
| ENST00000301732.10:c.1742-83_1742-78del MANE Select | ENSP00000301732.5:n.1742-83_1742-78del |
| NM_001089.2:c.1742-83_1742-78del | NP_001080.2:n.1742-83_1742-78del |
| ENST00000301732.9:c.1742-83_1742-78del | ENSP00000301732.5:n.1742-83_1742-78del |
| ENST00000382381.7:c.1568-83_1568-78del | ENSP00000371818.3:n.1568-83_1568-78del |
| ENST00000563623.5:n.2305-83_2305-78del |