Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48939775_48939784del , CM000674.2:g.48939775_48939784del | GRCh38 |
| NC_000012.11:g.49333558_49333567del , CM000674.1:g.49333558_49333567del | GRCh37 |
| NC_000012.10:g.47619825_47619834del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001659.2:c.260-5_264del | |
| NM_001659.3:c.260-5_264del | |
| ENST00000256682.8:c.260-5_264del | |
| ENST00000256682.9:c.260-5_264del | |
| ENST00000398092.4:c.260-5_264del | |
| ENST00000447318.6:c.149-5_153del | |
| ENST00000485410.5:n.137-937_137-928del | |
| ENST00000541236.5:c.260-5_264del | |
| ENST00000541959.5:c.260-5_264del | |
| XM_005268856.1:c.260-5_264del | |
| XM_006719391.2:c.260-5_264del | |
| XM_006719391.4:c.260-5_264del | |
| XM_011538322.1:c.260-5_264del | |
| XM_011538323.1:c.260-5_264del | |
| XM_024448972.1:c.260-5_264del |