Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35438203del , CM000682.2:g.35438203del | GRCh38 |
| NG_008076.2:g.5017del | |
| NG_008076.3:g.21544del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374369.8:c.-275del MANE Select | ENSP00000363489.3:n.-275del | |
| ENST00000374369.7:c.-275del | ENSP00000363489.3:n.-275del | |
| ENST00000374372.1:c.-241-34del | ENSP00000363492.1:n.-241-34del | |
| XM_011529075.1:c.-241-34del | XP_011527377.1:n.-241-34del | |
| XM_011529076.1:c.-241-34del | XP_011527378.1:n.-241-34del | |
| NM_001319138.1:c.-241-34del | NP_001306067.1:n.-241-34del | |
| NM_000557.5:c.-275del MANE Select | NP_000548.2:n.-275del | |
| NM_001319138.2:c.-241-34del | NP_001306067.1:n.-241-34del |