Linked Data
ClinVar Variation Id:
182986
dbSNP Id:
rs730882037
COSMIC:
COSM18127
MyVariant Identifiers:
chr3:g.10183711del (hg19)
chr3:g.10183710del (hg19)
chr3:g.10142027del (hg38)
CIViC:
CA020069
PCER:
P-CER:CA020069/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142027del , CM000665.2:g.10142027del | GRCh38 |
| NC_000003.11:g.10183711del , CM000665.1:g.10183711del | GRCh37 |
| NC_000003.10:g.10158711del | NCBI36 |
| NG_008212.3:g.5393del , LRG_322:g.5393del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.180del | ENSP00000512434.1:p.Val62CysfsTer5 | |
| ENST00000696143.1:c.180del | ENSP00000512435.1:p.Val62CysfsTer5 | |
| ENST00000696153.1:c.180del | ENSP00000512444.1:p.Val62CysfsTer5 | |
| ENST00000256474.3:c.180del MANE Select | ENSP00000256474.3:p.Val62CysfsTer5 | |
| ENST00000256474.2:c.180del | ENSP00000256474.2:p.Val62CysfsTer5 | |
| ENST00000345392.2:c.180del | ENSP00000344757.2:p.Val62CysfsTer5 | |
| NM_000551.3:c.180del , LRG_322t1:c.180del | NP_000542.1:p.Val62CysfsTer5 | |
| NM_198156.2:c.180del | NP_937799.1:p.Val62CysfsTer5 | |
| XM_011534078.1:c.180del | XP_011532380.1:p.Val62CysfsTer5 | |
| NM_001354723.1:c.180del | NP_001341652.1:p.Val62CysfsTer5 | |
| NM_000551.4:c.180del MANE Select | NP_000542.1:p.Val62CysfsTer5 | |
| NM_001354723.2:c.180del | NP_001341652.1:p.Val62CysfsTer5 | |
| NM_198156.3:c.180del | NP_937799.1:p.Val62CysfsTer5 |