Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40199628del , CM000677.2:g.40199628del | GRCh38 |
| NC_000015.9:g.40491829del , CM000677.1:g.40491829del | GRCh37 |
| NC_000015.8:g.38279121del | NCBI36 |
| NG_016338.1:g.43620del , LRG_489:g.43620del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.1302del MANE Select | NP_001202.5:p.Ser435ValfsTer19 |
| ENST00000287598.11:c.1302del MANE Select | ENSP00000287598.7:p.Ser435ValfsTer19 |
| NM_001211.5:c.1302del , LRG_489t1:c.1302del | NP_001202.4:p.Ser435ValfsTer19 |
| ENST00000287598.10:c.1302del | ENSP00000287598.6:p.Ser435ValfsTer19 |
| ENST00000412359.7:c.1344del | ENSP00000398470.3:p.Ser449ValfsTer19 |
| ENST00000559733.5:c.414del | |
| ENST00000559772.1:n.415del | |
| XR_001751506.1:n.218-19426del |