Linked Data
ClinVar Variation Id:
375942
ClinVar RCV Id:
RCV000443303
dbSNP Id:
rs121913368
COSMIC:
COSM1126
MyVariant Identifiers:
chr7:g.140453145_140453146delinsGA (hg19)
PubMed:
PMID:12068308
PMID:12460918
PMID:12460919
PMID:19010912
PMID:19238210
PMID:21483012
PMID:22649091
PMID:22798288
PMID:22805292
PMID:23715574
PMID:23833300
PMID:25157968
CIViC:
CA16602421
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753345_140753346delinsGA , CM000669.2:g.140753345_140753346delinsGA | GRCh38 |
| NC_000007.13:g.140453145_140453146delinsGA , CM000669.1:g.140453145_140453146delinsGA | GRCh37 |
| NC_000007.12:g.140099614_140099615delinsGA | NCBI36 |
| NG_007873.3:g.176419_176420delinsTC , LRG_299:g.176419_176420delinsTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1789_1790delinsTC MANE Select | ENSP00000493543.1:p.Leu597Ser | |
| ENST00000288602.11:c.1909_1910delinsTC | ENSP00000288602.7:p.Leu637Ser | |
| ENST00000479537.6:c.459_460delinsTC | ||
| ENST00000496384.7:c.1789_1790delinsTC | ENSP00000419060.2:p.Leu597Ser | |
| ENST00000497784.2:c.*1239_*1240delinsTC | ENSP00000420119.2:n.*1239_*1240delinsTC | |
| ENST00000642228.1:c.*867_*868delinsTC | ENSP00000493678.1:n.*867_*868delinsTC | |
| ENST00000642875.1:n.1259-3928_1259-3927delinsTC | ||
| ENST00000644120.1:n.2179_2180delinsTC | ||
| ENST00000644650.1:c.885_886delinsTC | ||
| ENST00000644905.1:n.2671_2672delinsTC | ||
| ENST00000644969.2:c.1909_1910delinsTC MANE Plus Clinical | ENSP00000496776.1:p.Leu637Ser | |
| ENST00000646730.1:c.*365_*366delinsTC | ENSP00000494784.1:n.*365_*366delinsTC | |
| ENST00000646891.1:c.1789_1790delinsTC | ENSP00000493543.1:p.Leu597Ser | |
| ENST00000647434.1:c.738-3928_738-3927delinsTC | ENSP00000495132.1:n.738-3928_738-3927deli... | |
| ENST00000288602.10:c.1789_1790delinsTC | ENSP00000288602.6:p.Leu597Ser | |
| ENST00000479537.5:c.73_74delinsTC | ENSP00000418033.1:p.Leu25Ser | |
| ENST00000496384.6:c.612_613delinsTC | ||
| ENST00000497784.1:c.1824_1825delinsTC | ENSP00000420119.1:n.1824_1825delinsTC | |
| NM_004333.4:c.1789_1790delinsTC , LRG_299t1:c.1789_1790delinsTC | NP_004324.2:p.Leu597Ser | |
| XM_005250045.1:c.1789_1790delinsTC | XP_005250102.1:p.Leu597Ser | |
| XM_005250046.1:c.1789_1790delinsTC | XP_005250103.1:p.Leu597Ser | |
| XM_011516529.1:c.1789_1790delinsTC | XP_011514831.1:p.Leu597Ser | |
| XM_011516530.1:c.1695-3928_1695-3927delinsTC | XP_011514832.1:n.1695-3928_1695-3927delin... | |
| XR_242190.1:n.1797_1798delinsTC | ||
| XR_927520.1:n.1797_1798delinsTC | ||
| XR_927521.1:n.1797_1798delinsTC | ||
| XR_927522.1:n.1703-3928_1703-3927delinsTC | ||
| XR_927523.1:n.1703-3928_1703-3927delinsTC | ||
| NM_001354609.1:c.1789_1790delinsTC | NP_001341538.1:p.Leu597Ser | |
| NM_004333.5:c.1789_1790delinsTC | NP_004324.2:p.Leu597Ser | |
| NR_148928.1:n.2887_2888delinsTC | ||
| XM_017012558.1:c.1909_1910delinsTC | XP_016868047.1:p.Leu637Ser | |
| XM_017012559.1:c.1909_1910delinsTC | XP_016868048.1:p.Leu637Ser | |
| XR_001744857.1:n.1917_1918delinsTC | ||
| XR_001744858.1:n.1823-3928_1823-3927delinsTC | ||
| NM_001354609.2:c.1789_1790delinsTC | NP_001341538.1:p.Leu597Ser | |
| NM_001374244.1:c.1909_1910delinsTC | NP_001361173.1:p.Leu637Ser | |
| NM_001374258.1:c.1909_1910delinsTC MANE Plus Clinical | NP_001361187.1:p.Leu637Ser | |
| NM_004333.6:c.1789_1790delinsTC MANE Select | NP_004324.2:p.Leu597Ser | |
| NM_001378467.1:c.1798_1799delinsTC | NP_001365396.1:p.Leu600Ser | |
| NM_001378468.1:c.1789_1790delinsTC | NP_001365397.1:p.Leu597Ser | |
| NM_001378469.1:c.1723_1724delinsTC | NP_001365398.1:p.Leu575Ser | |
| NM_001378470.1:c.1687_1688delinsTC | NP_001365399.1:p.Leu563Ser | |
| NM_001378471.1:c.1678_1679delinsTC | NP_001365400.1:p.Leu560Ser | |
| NM_001378472.1:c.1633_1634delinsTC | NP_001365401.1:p.Leu545Ser | |
| NM_001378473.1:c.1633_1634delinsTC | NP_001365402.1:p.Leu545Ser | |
| NM_001378474.1:c.1789_1790delinsTC | NP_001365403.1:p.Leu597Ser | |
| NM_001378475.1:c.1525_1526delinsTC | NP_001365404.1:p.Leu509Ser |