Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141848_10142197del , CM000665.2:g.10141848_10142197del | GRCh38 |
| NC_000003.11:g.10183532_10183881del , CM000665.1:g.10183532_10183881del | GRCh37 |
| NC_000003.10:g.10158532_10158881del | NCBI36 |
| NG_008212.3:g.5214_5563del , LRG_322:g.5214_5563del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000551.3:c.1_340+10del , LRG_322t1:c.1_340+10del | |
| NM_000551.4:c.1_340+10del | |
| NM_001354723.1:c.1_340+10del | |
| NM_001354723.2:c.1_340+10del | |
| NM_198156.2:c.1_340+10del | |
| NM_198156.3:c.1_340+10del | |
| ENST00000256474.2:c.1_340+10del | |
| ENST00000256474.3:c.1_340+10del | |
| ENST00000345392.2:c.1_340+10del | |
| ENST00000696142.1:c.1_340+10del | |
| ENST00000696143.1:c.1_340+10del | |
| ENST00000696153.1:c.1_340+10del | |
| XM_011534078.1:c.1_340+10del |