Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46083996del , CM000680.2:g.46083996del | GRCh38 |
| NC_000018.9:g.43663962del , CM000680.1:g.43663962del | GRCh37 |
| NC_000018.8:g.41917960del | NCBI36 |
| NG_041769.1:g.25238del | |
| NG_041769.2:g.30238del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398752.11:c.*286del MANE Select | ENSP00000381736.5:n.*286del | |
| ENST00000398752.10:c.*286del | ENSP00000381736.5:n.*286del | |
| NM_004046.6:c.*286del MANE Select | NP_004037.1:n.*286del | |
| NM_001001935.3:c.*286del | NP_001001935.1:n.*286del | |
| NM_001257334.2:c.*286del | NP_001244263.1:n.*286del | |
| NM_001001937.2:c.*286del | NP_001001937.1:n.*286del | |
| NM_001257335.2:c.*286del | NP_001244264.1:n.*286del |