Linked Data
ClinVar Variation Id:
375950
ClinVar RCV Id:
RCV000429405
dbSNP Id:
rs1057519720
COSMIC:
COSM6056848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140781602_140781603delinsAA , CM000669.2:g.140781602_140781603delinsAA | GRCh38 |
| NC_000007.13:g.140481402_140481403delinsAA , CM000669.1:g.140481402_140481403delinsAA | GRCh37 |
| NC_000007.12:g.140127871_140127872delinsAA | NCBI36 |
| NG_007873.3:g.148162_148163delinsTT , LRG_299:g.148162_148163delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1405_1406delinsTT MANE Select | ENSP00000493543.1:p.Gly469Leu | |
| ENST00000288602.11:c.1525_1526delinsTT | ENSP00000288602.7:p.Gly509Leu | |
| ENST00000479537.6:c.75_76delinsTT | ||
| ENST00000496384.7:c.1405_1406delinsTT | ENSP00000419060.2:p.Gly469Leu | |
| ENST00000497784.2:c.*855_*856delinsTT | ENSP00000420119.2:n.*855_*856delinsTT | |
| ENST00000642228.1:c.*483_*484delinsTT | ENSP00000493678.1:n.*483_*484delinsTT | |
| ENST00000642875.1:n.847_848delinsTT | ||
| ENST00000644120.1:n.1795_1796delinsTT | ||
| ENST00000644650.1:c.501_502delinsTT | ||
| ENST00000644905.1:n.1494_1495delinsTT | ||
| ENST00000644969.2:c.1525_1526delinsTT MANE Plus Clinical | ENSP00000496776.1:p.Gly509Leu | |
| ENST00000646334.1:n.535_536delinsTT | ||
| ENST00000646730.1:c.1405_1406delinsTT | ENSP00000494784.1:p.Gly469Leu | |
| ENST00000646891.1:c.1405_1406delinsTT | ENSP00000493543.1:p.Gly469Leu | |
| ENST00000647434.1:c.448_449delinsTT | ENSP00000495132.1:p.Gly150Leu | |
| ENST00000288602.10:c.1405_1406delinsTT | ENSP00000288602.6:p.Gly469Leu | |
| ENST00000496384.6:c.228_229delinsTT | ||
| ENST00000497784.1:c.1440_1441delinsTT | ENSP00000420119.1:n.1440_1441delinsTT | |
| NM_004333.4:c.1405_1406delinsTT , LRG_299t1:c.1405_1406delinsTT | NP_004324.2:p.Gly469Leu | |
| XM_005250045.1:c.1405_1406delinsTT | XP_005250102.1:p.Gly469Leu | |
| XM_005250046.1:c.1405_1406delinsTT | XP_005250103.1:p.Gly469Leu | |
| XM_011516529.1:c.1405_1406delinsTT | XP_011514831.1:p.Gly469Leu | |
| XM_011516530.1:c.1405_1406delinsTT | XP_011514832.1:p.Gly469Leu | |
| XR_242190.1:n.1413_1414delinsTT | ||
| XR_927520.1:n.1413_1414delinsTT | ||
| XR_927521.1:n.1413_1414delinsTT | ||
| XR_927522.1:n.1413_1414delinsTT | ||
| XR_927523.1:n.1413_1414delinsTT | ||
| NM_001354609.1:c.1405_1406delinsTT | NP_001341538.1:p.Gly469Leu | |
| NM_004333.5:c.1405_1406delinsTT | NP_004324.2:p.Gly469Leu | |
| NR_148928.1:n.1710_1711delinsTT | ||
| XM_017012558.1:c.1525_1526delinsTT | XP_016868047.1:p.Gly509Leu | |
| XM_017012559.1:c.1525_1526delinsTT | XP_016868048.1:p.Gly509Leu | |
| XR_001744857.1:n.1533_1534delinsTT | ||
| XR_001744858.1:n.1533_1534delinsTT | ||
| NM_001354609.2:c.1405_1406delinsTT | NP_001341538.1:p.Gly469Leu | |
| NM_001374244.1:c.1525_1526delinsTT | NP_001361173.1:p.Gly509Leu | |
| NM_001374258.1:c.1525_1526delinsTT MANE Plus Clinical | NP_001361187.1:p.Gly509Leu | |
| NM_004333.6:c.1405_1406delinsTT MANE Select | NP_004324.2:p.Gly469Leu | |
| NM_001378467.1:c.1414_1415delinsTT | NP_001365396.1:p.Gly472Leu | |
| NM_001378468.1:c.1405_1406delinsTT | NP_001365397.1:p.Gly469Leu | |
| NM_001378469.1:c.1339_1340delinsTT | NP_001365398.1:p.Gly447Leu | |
| NM_001378470.1:c.1303_1304delinsTT | NP_001365399.1:p.Gly435Leu | |
| NM_001378471.1:c.1294_1295delinsTT | NP_001365400.1:p.Gly432Leu | |
| NM_001378472.1:c.1249_1250delinsTT | NP_001365401.1:p.Gly417Leu | |
| NM_001378473.1:c.1249_1250delinsTT | NP_001365402.1:p.Gly417Leu | |
| NM_001378474.1:c.1405_1406delinsTT | NP_001365403.1:p.Gly469Leu | |
| NM_001378475.1:c.1141_1142delinsTT | NP_001365404.1:p.Gly381Leu |