Linked Data
ClinVar Variation Id:
375940
ClinVar RCV Id:
RCV000440177
dbSNP Id:
rs121913227
COSMIC:
COSM474
CIViC:
CA16021333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753336_140753337delinsCT , CM000669.2:g.140753336_140753337delinsCT | GRCh38 |
| NC_000007.13:g.140453136_140453137delinsCT , CM000669.1:g.140453136_140453137delinsCT | GRCh37 |
| NC_000007.12:g.140099605_140099606delinsCT | NCBI36 |
| NG_007873.3:g.176428_176429delinsAG , LRG_299:g.176428_176429delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1798_1799delinsAG MANE Select | ENSP00000493543.1:p.Val600Arg | |
| ENST00000288602.11:c.1918_1919delinsAG | ENSP00000288602.7:p.Val640Arg | |
| ENST00000479537.6:c.468_469delinsAG | ||
| ENST00000496384.7:c.1798_1799delinsAG | ENSP00000419060.2:p.Val600Arg | |
| ENST00000497784.2:c.*1248_*1249delinsAG | ENSP00000420119.2:n.*1248_*1249delinsAG | |
| ENST00000642228.1:c.*876_*877delinsAG | ENSP00000493678.1:n.*876_*877delinsAG | |
| ENST00000642875.1:n.1259-3919_1259-3918delinsAG | ||
| ENST00000644120.1:n.2188_2189delinsAG | ||
| ENST00000644650.1:c.894_895delinsAG | ||
| ENST00000644905.1:n.2680_2681delinsAG | ||
| ENST00000644969.2:c.1918_1919delinsAG MANE Plus Clinical | ENSP00000496776.1:p.Val640Arg | |
| ENST00000646730.1:c.*374_*375delinsAG | ENSP00000494784.1:n.*374_*375delinsAG | |
| ENST00000646891.1:c.1798_1799delinsAG | ENSP00000493543.1:p.Val600Arg | |
| ENST00000647434.1:c.738-3919_738-3918delinsAG | ENSP00000495132.1:n.738-3919_738-3918delinsAG | |
| ENST00000288602.10:c.1798_1799delinsAG | ENSP00000288602.6:p.Val600Arg | |
| ENST00000479537.5:c.82_83delinsAG | ENSP00000418033.1:p.Val28Arg | |
| ENST00000496384.6:c.621_622delinsAG | ||
| ENST00000497784.1:c.1833_1834delinsAG | ENSP00000420119.1:n.1833_1834delinsAG | |
| NM_004333.4:c.1798_1799delinsAG , LRG_299t1:c.1798_1799delinsAG | NP_004324.2:p.Val600Arg | |
| XM_005250045.1:c.1798_1799delinsAG | XP_005250102.1:p.Val600Arg | |
| XM_005250046.1:c.1798_1799delinsAG | XP_005250103.1:p.Val600Arg | |
| XM_011516529.1:c.1798_1799delinsAG | XP_011514831.1:p.Val600Arg | |
| XM_011516530.1:c.1695-3919_1695-3918delinsAG | XP_011514832.1:n.1695-3919_1695-3918delinsAG | |
| XR_242190.1:n.1806_1807delinsAG | ||
| XR_927520.1:n.1806_1807delinsAG | ||
| XR_927521.1:n.1806_1807delinsAG | ||
| XR_927522.1:n.1703-3919_1703-3918delinsAG | ||
| XR_927523.1:n.1703-3919_1703-3918delinsAG | ||
| NM_001354609.1:c.1798_1799delinsAG | NP_001341538.1:p.Val600Arg | |
| NM_004333.5:c.1798_1799delinsAG | NP_004324.2:p.Val600Arg | |
| NR_148928.1:n.2896_2897delinsAG | ||
| XM_017012558.1:c.1918_1919delinsAG | XP_016868047.1:p.Val640Arg | |
| XM_017012559.1:c.1918_1919delinsAG | XP_016868048.1:p.Val640Arg | |
| XR_001744857.1:n.1926_1927delinsAG | ||
| XR_001744858.1:n.1823-3919_1823-3918delinsAG | ||
| NM_001354609.2:c.1798_1799delinsAG | NP_001341538.1:p.Val600Arg | |
| NM_001374244.1:c.1918_1919delinsAG | NP_001361173.1:p.Val640Arg | |
| NM_001374258.1:c.1918_1919delinsAG MANE Plus Clinical | NP_001361187.1:p.Val640Arg | |
| NM_004333.6:c.1798_1799delinsAG MANE Select | NP_004324.2:p.Val600Arg | |
| NM_001378467.1:c.1807_1808delinsAG | NP_001365396.1:p.Val603Arg | |
| NM_001378468.1:c.1798_1799delinsAG | NP_001365397.1:p.Val600Arg | |
| NM_001378469.1:c.1732_1733delinsAG | NP_001365398.1:p.Val578Arg | |
| NM_001378470.1:c.1696_1697delinsAG | NP_001365399.1:p.Val566Arg | |
| NM_001378471.1:c.1687_1688delinsAG | NP_001365400.1:p.Val563Arg | |
| NM_001378472.1:c.1642_1643delinsAG | NP_001365401.1:p.Val548Arg | |
| NM_001378473.1:c.1642_1643delinsAG | NP_001365402.1:p.Val548Arg | |
| NM_001378474.1:c.1798_1799delinsAG | NP_001365403.1:p.Val600Arg | |
| NM_001378475.1:c.1534_1535delinsAG | NP_001365404.1:p.Val512Arg |