Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47379963_47379965del , CM000664.2:g.47379963_47379965del | GRCh38 |
| NC_000002.11:g.47607102_47607104del , CM000664.1:g.47607102_47607104del | GRCh37 |
| NC_000002.10:g.47460606_47460608del | NCBI36 |
| NG_012352.2:g.39801_39803del , LRG_215:g.39801_39803del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.3:c.852_854del MANE Select | NP_002345.2:p.Val285del |
| ENST00000263735.9:c.852_854del MANE Select | ENSP00000263735.4:p.Val285del |
| NM_002354.2:c.852_854del , LRG_215t1:c.852_854del | NP_002345.2:p.Val285del |
| ENST00000263735.8:c.852_854del | ENSP00000263735.4:p.Val285del |
| ENST00000405271.5:c.936_938del | ENSP00000385476.1:p.Val313del |
| ENST00000456133.5:c.936_938del | ENSP00000410675.1:p.Val313del |
| ENST00000490733.1:n.701_703del |