Linked Data
ClinVar Variation Id:
2498282
ClinVar RCV Id:
RCV003222500
dbSNP Id:
rs121913377
COSMIC:
COSM308550
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753335_140753336delinsGT , CM000669.2:g.140753335_140753336delinsGT | GRCh38 |
| NC_000007.13:g.140453135_140453136delinsGT , CM000669.1:g.140453135_140453136delinsGT | GRCh37 |
| NC_000007.12:g.140099604_140099605delinsGT | NCBI36 |
| NG_007873.3:g.176429_176430delinsAC , LRG_299:g.176429_176430delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1799_1800delinsAC MANE Select | ENSP00000493543.1:p.Val600Asp | |
| ENST00000288602.11:c.1919_1920delinsAC | ENSP00000288602.7:p.Val640Asp | |
| ENST00000479537.6:c.469_470delinsAC | ||
| ENST00000496384.7:c.1799_1800delinsAC | ENSP00000419060.2:p.Val600Asp | |
| ENST00000497784.2:c.*1249_*1250delinsAC | ENSP00000420119.2:n.*1249_*1250delinsAC | |
| ENST00000642228.1:c.*877_*878delinsAC | ENSP00000493678.1:n.*877_*878delinsAC | |
| ENST00000642875.1:n.1259-3918_1259-3917delinsAC | ||
| ENST00000644120.1:n.2189_2190delinsAC | ||
| ENST00000644650.1:c.895_896delinsAC | ||
| ENST00000644905.1:n.2681_2682delinsAC | ||
| ENST00000644969.2:c.1919_1920delinsAC MANE Plus Clinical | ENSP00000496776.1:p.Val640Asp | |
| ENST00000646730.1:c.*375_*376delinsAC | ENSP00000494784.1:n.*375_*376delinsAC | |
| ENST00000646891.1:c.1799_1800delinsAC | ENSP00000493543.1:p.Val600Asp | |
| ENST00000647434.1:c.738-3918_738-3917delinsAC | ENSP00000495132.1:n.738-3918_738-3917delinsAC | |
| ENST00000288602.10:c.1799_1800delinsAC | ENSP00000288602.6:p.Val600Asp | |
| ENST00000479537.5:c.83_84delinsAC | ENSP00000418033.1:p.Val28Asp | |
| ENST00000496384.6:c.622_623delinsAC | ||
| ENST00000497784.1:c.1834_1835delinsAC | ENSP00000420119.1:n.1834_1835delinsAC | |
| NM_004333.4:c.1799_1800delinsAC , LRG_299t1:c.1799_1800delinsAC | NP_004324.2:p.Val600Asp | |
| XM_005250045.1:c.1799_1800delinsAC | XP_005250102.1:p.Val600Asp | |
| XM_005250046.1:c.1799_1800delinsAC | XP_005250103.1:p.Val600Asp | |
| XM_011516529.1:c.1799_1800delinsAC | XP_011514831.1:p.Val600Asp | |
| XM_011516530.1:c.1695-3918_1695-3917delinsAC | XP_011514832.1:n.1695-3918_1695-3917delinsAC | |
| XR_242190.1:n.1807_1808delinsAC | ||
| XR_927520.1:n.1807_1808delinsAC | ||
| XR_927521.1:n.1807_1808delinsAC | ||
| XR_927522.1:n.1703-3918_1703-3917delinsAC | ||
| XR_927523.1:n.1703-3918_1703-3917delinsAC | ||
| NM_001354609.1:c.1799_1800delinsAC | NP_001341538.1:p.Val600Asp | |
| NM_004333.5:c.1799_1800delinsAC | NP_004324.2:p.Val600Asp | |
| NR_148928.1:n.2897_2898delinsAC | ||
| XM_017012558.1:c.1919_1920delinsAC | XP_016868047.1:p.Val640Asp | |
| XM_017012559.1:c.1919_1920delinsAC | XP_016868048.1:p.Val640Asp | |
| XR_001744857.1:n.1927_1928delinsAC | ||
| XR_001744858.1:n.1823-3918_1823-3917delinsAC | ||
| NM_001354609.2:c.1799_1800delinsAC | NP_001341538.1:p.Val600Asp | |
| NM_001374244.1:c.1919_1920delinsAC | NP_001361173.1:p.Val640Asp | |
| NM_001374258.1:c.1919_1920delinsAC MANE Plus Clinical | NP_001361187.1:p.Val640Asp | |
| NM_004333.6:c.1799_1800delinsAC MANE Select | NP_004324.2:p.Val600Asp | |
| NM_001378467.1:c.1808_1809delinsAC | NP_001365396.1:p.Val603Asp | |
| NM_001378468.1:c.1799_1800delinsAC | NP_001365397.1:p.Val600Asp | |
| NM_001378469.1:c.1733_1734delinsAC | NP_001365398.1:p.Val578Asp | |
| NM_001378470.1:c.1697_1698delinsAC | NP_001365399.1:p.Val566Asp | |
| NM_001378471.1:c.1688_1689delinsAC | NP_001365400.1:p.Val563Asp | |
| NM_001378472.1:c.1643_1644delinsAC | NP_001365401.1:p.Val548Asp | |
| NM_001378473.1:c.1643_1644delinsAC | NP_001365402.1:p.Val548Asp | |
| NM_001378474.1:c.1799_1800delinsAC | NP_001365403.1:p.Val600Asp | |
| NM_001378475.1:c.1535_1536delinsAC | NP_001365404.1:p.Val512Asp |