Linked Data
ClinVar Variation Id:
182959
dbSNP Id:
rs730882020
COSMIC:
COSM34030
CIViC:
CA020404
ERepo:
CA020404/MONDO:0008667/078
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149800del , CM000665.2:g.10149800del | GRCh38 |
| NC_000003.11:g.10191484del , CM000665.1:g.10191484del | GRCh37 |
| NC_000003.10:g.10166484del | NCBI36 |
| NG_008212.3:g.13166del , LRG_322:g.13166del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*154del | ENSP00000512434.1:n.*154del | |
| ENST00000696143.1:c.613del | ENSP00000512435.1:n.613del | |
| ENST00000696153.1:c.588del | ENSP00000512444.1:p.Glu197SerfsTer10 | |
| ENST00000256474.3:c.477del MANE Select | ENSP00000256474.3:p.Glu160SerfsTer10 | |
| ENST00000256474.2:c.477del | ENSP00000256474.2:p.Glu160SerfsTer10 | |
| ENST00000345392.2:c.354del | ENSP00000344757.2:p.Glu119SerfsTer10 | |
| ENST00000477538.1:n.613del | ||
| NM_000551.3:c.477del , LRG_322t1:c.477del | NP_000542.1:p.Glu160SerfsTer10 | |
| NM_198156.2:c.354del | NP_937799.1:p.Glu119SerfsTer10 | |
| NM_001354723.1:c.*31del | NP_001341652.1:n.*31del | |
| NM_000551.4:c.477del MANE Select | NP_000542.1:p.Glu160SerfsTer10 | |
| NM_001354723.2:c.*31del | NP_001341652.1:n.*31del | |
| NM_198156.3:c.354del | NP_937799.1:p.Glu119SerfsTer10 |