Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21215793_21215794del , CM000674.2:g.21215793_21215794del | GRCh38 |
| NC_000012.11:g.21368727_21368728del , CM000674.1:g.21368727_21368728del | GRCh37 |
| NC_000012.10:g.21259994_21259995del | NCBI36 |
| NG_011745.1:g.89600_89601del , LRG_1022:g.89600_89601del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.1498-1326_1498-1325del MANE Select | ENSP00000256958.2:n.1498-1326_1498-1325del | |
| ENST00000256958.2:c.1498-1326_1498-1325del | ENSP00000256958.2:n.1498-1326_1498-1325del | |
| NM_006446.4:c.1498-1326_1498-1325del , LRG_1022t1:c.1498-1326_1498-1325del | NP_006437.3:n.1498-1326_1498-1325del | |
| NM_006446.5:c.1498-1326_1498-1325del MANE Select | NP_006437.3:n.1498-1326_1498-1325del |