Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142082_10142189del , CM000665.2:g.10142082_10142189del | GRCh38 |
| NC_000003.11:g.10183766_10183873del , CM000665.1:g.10183766_10183873del | GRCh37 |
| NC_000003.10:g.10158766_10158873del | NCBI36 |
| NG_008212.3:g.5448_5555del , LRG_322:g.5448_5555del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000551.3:c.235_340+2del , LRG_322t1:c.235_340+2del | |
| NM_000551.4:c.235_340+2del | |
| NM_001354723.1:c.235_340+2del | |
| NM_001354723.2:c.235_340+2del | |
| NM_198156.2:c.235_340+2del | |
| NM_198156.3:c.235_340+2del | |
| ENST00000256474.2:c.235_340+2del | |
| ENST00000256474.3:c.235_340+2del | |
| ENST00000345392.2:c.235_340+2del | |
| ENST00000696142.1:c.235_340+2del | |
| ENST00000696143.1:c.235_340+2del | |
| ENST00000696153.1:c.235_340+2del | |
| XM_011534078.1:c.235_340+2del |