Linked Data
ClinVar Variation Id:
1184206
ClinVar RCV Id:
RCV001542179
dbSNP Id:
rs2107672708
COSMIC:
COSM1733108
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128486185_128486186del , CM000665.2:g.128486185_128486186del | GRCh38 |
| NC_000003.11:g.128205028_128205029del , CM000665.1:g.128205028_128205029del | GRCh37 |
| NC_000003.10:g.129687718_129687719del | NCBI36 |
| NG_029334.1:g.12006_12007del , LRG_295:g.12006_12007del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.416_417del MANE Plus Clinical | ENSP00000417074.1:p.Ser139CysfsTer? | |
| ENST00000696466.1:c.698_699del | ENSP00000512647.1:p.Ser233CysfsTer? | |
| ENST00000341105.7:c.416_417del MANE Select | ENSP00000345681.2:p.Ser139CysfsTer? | |
| ENST00000341105.6:c.416_417del | ENSP00000345681.2:p.Ser139CysfsTer? | |
| ENST00000430265.6:c.416_417del | ENSP00000400259.2:p.Ser139CysfsTer? | |
| ENST00000487848.5:c.416_417del | ENSP00000417074.1:p.Ser139CysfsTer? | |
| ENST00000492608.1:c.416_417del | ENSP00000418132.1:p.Ser139CysfsTer? | |
| NM_001145661.1:c.416_417del , LRG_295t1:c.416_417del | NP_001139133.1:p.Ser139CysfsTer? | |
| NM_001145662.1:c.416_417del | NP_001139134.1:p.Ser139CysfsTer? | |
| NM_032638.4:c.416_417del , LRG_295t2:c.416_417del | NP_116027.2:p.Ser139CysfsTer? | |
| NM_001145661.2:c.416_417del MANE Plus Clinical | NP_001139133.1:p.Ser139CysfsTer? | |
| NM_032638.5:c.416_417del MANE Select | NP_116027.2:p.Ser139CysfsTer? |