Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225653del , CM000668.2:g.3225653del | GRCh38 |
| NC_000006.11:g.3225887del , CM000668.1:g.3225887del | GRCh37 |
| NC_000006.10:g.3170886del | NCBI36 |
| NG_016715.1:g.7084del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.438del MANE Select | ENSP00000259818.6:p.Met147TrpfsTer18 | |
| ENST00000680070.1:n.1368del | ||
| ENST00000681707.1:n.1265del | ||
| ENST00000681757.1:n.743del | ||
| ENST00000259818.7:c.438del | ENSP00000259818.6:p.Met147TrpfsTer18 | |
| ENST00000473006.1:n.555del | ||
| NM_178012.4:c.438del | NP_821080.1:p.Met147TrpfsTer18 | |
| XM_011514571.1:c.222del | XP_011512873.1:p.Met75TrpfsTer18 | |
| NM_178012.5:c.438del MANE Select | NP_821080.1:p.Met147TrpfsTer18 |