Linked Data
ClinVar Variation Id:
2925347
ClinVar RCV Id:
RCV003781001
COSMIC:
COSM14332
MyVariant Identifiers:
chr3:g.10191499del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149816del , CM000665.2:g.10149816del | GRCh38 |
| NC_000003.11:g.10191500del , CM000665.1:g.10191500del | GRCh37 |
| NC_000003.10:g.10166500del | NCBI36 |
| NG_008212.3:g.13182del , LRG_322:g.13182del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*170del | ENSP00000512434.1:n.*170del | |
| ENST00000696143.1:c.629del | ENSP00000512435.1:n.629del | |
| ENST00000696153.1:c.604del | ENSP00000512444.1:p.Val202LeufsTer5 | |
| ENST00000256474.3:c.493del MANE Select | ENSP00000256474.3:p.Val165LeufsTer5 | |
| ENST00000256474.2:c.493del | ENSP00000256474.2:p.Val165LeufsTer5 | |
| ENST00000345392.2:c.370del | ENSP00000344757.2:p.Val124LeufsTer5 | |
| ENST00000477538.1:n.629del | ||
| NM_000551.3:c.493del , LRG_322t1:c.493del | NP_000542.1:p.Val165LeufsTer5 | |
| NM_198156.2:c.370del | NP_937799.1:p.Val124LeufsTer5 | |
| NM_001354723.1:c.*47del | NP_001341652.1:n.*47del | |
| NM_000551.4:c.493del MANE Select | NP_000542.1:p.Val165LeufsTer5 | |
| NM_001354723.2:c.*47del | NP_001341652.1:n.*47del | |
| NM_198156.3:c.370del | NP_937799.1:p.Val124LeufsTer5 |