Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74457284del , CM000673.2:g.74457284del | GRCh38 |
| NC_000011.9:g.74168329del , CM000673.1:g.74168329del | GRCh37 |
| NC_000011.8:g.73845977del | NCBI36 |
| NG_011833.1:g.15272del , LRG_439:g.15272del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310128.9:c.280del MANE Select | ENSP00000310557.4:p.Val94CysfsTer9 | |
| ENST00000310128.8:c.280del | ENSP00000310557.4:p.Val94CysfsTer9 | |
| ENST00000525550.1:c.280del | ENSP00000433633.1:p.Val94CysfsTer9 | |
| ENST00000532569.5:c.280del | ENSP00000431739.1:p.Val94CysfsTer? | |
| NM_005472.4:c.280del , LRG_439t1:c.280del | NP_005463.1:p.Val94CysfsTer9 | |
| XM_011544713.1:c.412del | XP_011543015.1:p.Val138CysfsTer9 | |
| XM_011544713.2:c.412del | XP_011543015.1:p.Val138CysfsTer9 | |
| XM_017017047.1:c.280del | XP_016872536.1:p.Val94CysfsTer9 | |
| XM_017017048.1:c.280del | XP_016872537.1:p.Val94CysfsTer9 | |
| XM_017017049.1:c.280del | XP_016872538.1:p.Val94CysfsTer9 | |
| XM_017017051.2:c.280del | XP_016872540.1:p.Val94CysfsTer9 | |
| XM_017017052.1:c.280del | XP_016872541.1:p.Val94CysfsTer9 | |
| NM_005472.5:c.280del MANE Select | NP_005463.1:p.Val94CysfsTer9 |