Linked Data
ClinVar Variation Id:
1739241
ClinVar RCV Id:
RCV002330016
COSMIC:
COSM18215
MyVariant Identifiers:
chr3:g.10188283del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146599del , CM000665.2:g.10146599del | GRCh38 |
| NC_000003.11:g.10188283del , CM000665.1:g.10188283del | GRCh37 |
| NC_000003.10:g.10163283del | NCBI36 |
| NG_008212.3:g.9965del , LRG_322:g.9965del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*103del | ENSP00000512434.1:n.*103del | |
| ENST00000696143.1:c.600-3188del | ENSP00000512435.1:n.600-3188del | |
| ENST00000696153.1:c.426del | ENSP00000512444.1:p.Asp143ThrfsTer26 | |
| ENST00000256474.3:c.426del MANE Select | ENSP00000256474.3:p.Asp143ThrfsTer16 | |
| ENST00000256474.2:c.426del | ENSP00000256474.2:p.Asp143ThrfsTer16 | |
| ENST00000345392.2:c.341-3188del | ENSP00000344757.2:n.341-3188del | |
| ENST00000477538.1:n.562del | ||
| NM_000551.3:c.426del , LRG_322t1:c.426del | NP_000542.1:p.Asp143ThrfsTer16 | |
| NM_198156.2:c.341-3188del | NP_937799.1:n.341-3188del | |
| XM_011534078.1:c.*103del | XP_011532380.1:n.*103del | |
| NM_001354723.1:c.*18-3188del | NP_001341652.1:n.*18-3188del | |
| NM_000551.4:c.426del MANE Select | NP_000542.1:p.Asp143ThrfsTer16 | |
| NM_001354723.2:c.*18-3188del | NP_001341652.1:n.*18-3188del | |
| NM_198156.3:c.341-3188del | NP_937799.1:n.341-3188del |