Linked Data
ClinVar Variation Id:
625252
ClinVar RCV Id:
RCV000767277
dbSNP Id:
rs730882020
MyVariant Identifiers:
chr3:g.10191482_10191483insA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149800dup , CM000665.2:g.10149800dup | GRCh38 |
| NC_000003.11:g.10191484dup , CM000665.1:g.10191484dup | GRCh37 |
| NC_000003.10:g.10166484dup | NCBI36 |
| NG_008212.3:g.13166dup , LRG_322:g.13166dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*154dup | ENSP00000512434.1:n.*154dup | |
| ENST00000696143.1:c.613dup | ENSP00000512435.1:n.613dup | |
| ENST00000696153.1:c.588dup | ENSP00000512444.1:p.Glu197ArgfsTer14 | |
| ENST00000256474.3:c.477dup MANE Select | ENSP00000256474.3:p.Glu160ArgfsTer14 | |
| ENST00000256474.2:c.477dup | ENSP00000256474.2:p.Glu160ArgfsTer14 | |
| ENST00000345392.2:c.354dup | ENSP00000344757.2:p.Glu119ArgfsTer14 | |
| ENST00000477538.1:n.613dup | ||
| NM_000551.3:c.477dup , LRG_322t1:c.477dup | NP_000542.1:p.Glu160ArgfsTer14 | |
| NM_198156.2:c.354dup | NP_937799.1:p.Glu119ArgfsTer14 | |
| NM_001354723.1:c.*31dup | NP_001341652.1:n.*31dup | |
| NM_000551.4:c.477dup MANE Select | NP_000542.1:p.Glu160ArgfsTer14 | |
| NM_001354723.2:c.*31dup | NP_001341652.1:n.*31dup | |
| NM_198156.3:c.354dup | NP_937799.1:p.Glu119ArgfsTer14 |