Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56385548_56389476del , CM000678.2:g.56385548_56389476del | GRCh38 |
| NC_000016.9:g.56419460_56423388del , CM000678.1:g.56419460_56423388del | GRCh37 |
| NC_000016.8:g.54976961_54980889del | NCBI36 |
| NG_047034.1:g.41067_44995del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001144.5:c.1086-97_1380+375del | |
| NM_001144.6:c.1086-97_1380+375del | |
| NM_001323511.1:c.801-97_1095+375del | |
| NM_001323511.2:c.801-97_1095+375del | |
| NM_001323512.1:c.1086-97_1476+375del | |
| NM_001323512.2:c.1086-97_1476+375del | |
| ENST00000290649.10:c.1086-97_1380+375del | |
| ENST00000290649.9:c.1086-97_1380+375del | |
| ENST00000492830.5:c.245-3450_348+375del | |
| ENST00000567738.1:c.231-97_621+375del | |
| XM_005255889.2:c.801-97_1095+375del | |
| XM_005255890.2:c.801-97_1095+375del | |
| XM_005255890.4:c.801-97_1095+375del |