Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141971_10142190del , CM000665.2:g.10141971_10142190del | GRCh38 |
| NC_000003.11:g.10183655_10183874del , CM000665.1:g.10183655_10183874del | GRCh37 |
| NC_000003.10:g.10158655_10158874del | NCBI36 |
| NG_008212.3:g.5337_5556del , LRG_322:g.5337_5556del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000551.3:c.124_340+3del , LRG_322t1:c.124_340+3del | |
| NM_000551.4:c.124_340+3del | |
| NM_001354723.1:c.124_340+3del | |
| NM_001354723.2:c.124_340+3del | |
| NM_198156.2:c.124_340+3del | |
| NM_198156.3:c.124_340+3del | |
| ENST00000256474.2:c.124_340+3del | |
| ENST00000256474.3:c.124_340+3del | |
| ENST00000345392.2:c.124_340+3del | |
| ENST00000696142.1:c.124_340+3del | |
| ENST00000696143.1:c.124_340+3del | |
| ENST00000696153.1:c.124_340+3del | |
| XM_011534078.1:c.124_340+3del |