Linked Data
dbSNP Id:
rs1817191692
COSMIC:
COSM1349691
MyVariant Identifiers:
chr10:g.90774094_90774095insA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014342dup , CM000672.2:g.89014342dup | GRCh38 |
| NC_000010.10:g.90774099dup , CM000672.1:g.90774099dup | GRCh37 |
| NC_000010.9:g.90764079dup | NCBI36 |
| NG_009089.2:g.28812dup , LRG_134:g.28812dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1209dup | ||
| ENST00000355740.8:c.*223dup | ENSP00000347979.3:n.*223dup | |
| ENST00000357339.7:c.837dup | ENSP00000349896.2:p.Ala280SerfsTer20 | |
| ENST00000371857.8:n.2445dup | ||
| ENST00000460510.6:c.183dup | ENSP00000512812.1:p.Ala62SerfsTer20 | |
| ENST00000466081.6:n.2549dup | ||
| ENST00000477270.6:c.945dup | ENSP00000512813.1:p.Ala316SerfsTer20 | |
| ENST00000479522.6:c.*329dup | ENSP00000424113.1:n.*329dup | |
| ENST00000484444.6:c.*341dup | ENSP00000420975.1:n.*341dup | |
| ENST00000488877.6:c.791dup | ENSP00000425159.1:n.791dup | |
| ENST00000492756.7:c.*329dup | ENSP00000422453.1:n.*329dup | |
| ENST00000494799.6:c.183dup | ENSP00000512834.1:p.Ala62SerfsTer20 | |
| ENST00000562983.3:c.183dup | ENSP00000512845.1:p.Ala62SerfsTer20 | |
| ENST00000612663.6:c.*302dup | ENSP00000477997.3:n.*302dup | |
| ENST00000640140.2:n.1045dup | ||
| ENST00000640250.2:n.399dup | ||
| ENST00000640681.2:n.1004dup | ||
| ENST00000696723.1:n.4533dup | ||
| ENST00000696741.1:n.2538dup | ||
| ENST00000696742.1:n.2265dup | ||
| ENST00000696743.1:n.3668dup | ||
| ENST00000696744.1:n.939dup | ||
| ENST00000696767.1:n.1234dup | ||
| ENST00000696768.1:c.*223dup | ENSP00000512859.1:n.*223dup | |
| ENST00000696769.1:n.2589dup | ||
| ENST00000696771.1:c.183dup | ENSP00000512860.1:p.Ala62SerfsTer20 | |
| ENST00000696772.1:n.2503dup | ||
| ENST00000696773.1:n.2242dup | ||
| ENST00000696774.1:n.6010dup | ||
| ENST00000696776.1:c.993dup | ENSP00000512861.1:p.Ala332SerfsTer20 | |
| ENST00000696777.1:n.2308dup | ||
| ENST00000696778.1:n.1336dup | ||
| ENST00000696779.1:c.507dup | ENSP00000512862.1:p.Ala170SerfsTer20 | |
| ENST00000696780.1:c.930dup | ENSP00000512863.1:p.Ala311SerfsTer20 | |
| ENST00000696781.1:c.645dup | ENSP00000512864.1:p.Ala216SerfsTer20 | |
| ENST00000696782.1:c.*302dup | ENSP00000512865.1:n.*302dup | |
| ENST00000696783.1:n.2768dup | ||
| ENST00000696992.1:n.2017dup | ||
| ENST00000696995.1:n.4429dup | ||
| ENST00000696996.1:n.2342dup | ||
| ENST00000696997.1:c.*530dup | ENSP00000513028.1:n.*530dup | |
| ENST00000696998.1:n.2154dup | ||
| ENST00000696999.1:c.183dup | ENSP00000513029.1:p.Ala62SerfsTer20 | |
| ENST00000697036.1:c.*316dup | ENSP00000513060.1:n.*316dup | |
| ENST00000697037.1:n.935dup | ||
| ENST00000697093.1:n.3136dup | ||
| ENST00000697094.1:n.3483dup | ||
| ENST00000697095.1:c.*2101dup | ENSP00000513104.1:n.*2101dup | |
| ENST00000697096.1:n.2033dup | ||
| ENST00000697097.1:c.183dup | ENSP00000513105.1:p.Ala62SerfsTer20 | |
| ENST00000562983.2:n.1086dup | ||
| ENST00000690268.1:c.981dup | ENSP00000509810.1:p.Ala328SerfsTer20 | |
| ENST00000355740.7:c.*226dup | ENSP00000347979.3:n.*226dup | |
| ENST00000612663.5:c.*302dup | ENSP00000477997.3:n.*302dup | |
| ENST00000640140.1:n.1072dup | ||
| ENST00000640250.1:n.399dup | ||
| ENST00000640681.1:n.1021dup | ||
| ENST00000652046.1:c.900dup MANE Select | ENSP00000498466.1:p.Ala301SerfsTer20 | |
| ENST00000352159.8:c.*217dup | ENSP00000345601.4:n.*217dup | |
| ENST00000355279.2:c.875dup | ENSP00000347426.2:n.875dup | |
| ENST00000355740.6:c.900dup | ENSP00000347979.2:p.Ala301SerfsTer20 | |
| ENST00000357339.6:c.837dup | ENSP00000349896.2:p.Ala280SerfsTer20 | |
| ENST00000479522.5:c.*329dup | ENSP00000424113.1:n.*329dup | |
| ENST00000484444.5:c.*341dup | ENSP00000420975.1:n.*341dup | |
| ENST00000488877.5:c.*341dup | ENSP00000425159.1:n.*341dup | |
| ENST00000492756.5:c.728dup | ENSP00000422453.1:n.728dup | |
| ENST00000494410.5:c.*258dup | ENSP00000423755.1:n.*258dup | |
| ENST00000612663.4:c.*247dup | ENSP00000477997.2:n.*247dup | |
| NM_000043.4:c.900dup , LRG_134t1:c.900dup | NP_000034.1:p.Ala301SerfsTer20 | |
| NM_152871.2:c.837dup | NP_690610.1:p.Ala280SerfsTer20 | |
| NM_152872.2:c.*212dup | NP_690611.1:n.*212dup | |
| NR_028033.2:n.1074dup | ||
| NR_028034.2:n.936dup | ||
| NR_028035.2:n.999dup | ||
| NR_028036.2:n.1137dup | ||
| XM_006717819.2:c.981dup | XP_006717882.1:p.Ala328SerfsTer20 | |
| XM_011539764.1:c.1062dup | XP_011538066.1:p.Ala355SerfsTer20 | |
| XM_011539765.1:c.999dup | XP_011538067.1:p.Ala334SerfsTer20 | |
| XM_011539766.1:c.981dup | XP_011538068.1:p.Ala328SerfsTer20 | |
| XM_011539767.1:c.945dup | XP_011538069.1:p.Ala316SerfsTer20 | |
| XR_945732.1:n.968dup | ||
| XR_945733.1:n.905dup | ||
| NM_000043.5:c.900dup | NP_000034.1:p.Ala301SerfsTer20 | |
| NM_001320619.1:c.*223dup | NP_001307548.1:n.*223dup | |
| NM_152871.3:c.837dup | NP_690610.1:p.Ala280SerfsTer20 | |
| NM_152872.3:c.*212dup | NP_690611.1:n.*212dup | |
| NR_028033.3:n.1046dup | ||
| NR_028034.3:n.908dup | ||
| NR_028035.3:n.971dup | ||
| NR_028036.3:n.1109dup | ||
| NR_135313.1:n.1026dup | ||
| NR_135314.1:n.1209dup | ||
| NR_135315.1:n.962dup | ||
| XM_006717819.3:c.981dup | XP_006717882.1:p.Ala328SerfsTer20 | |
| XM_011539764.2:c.1062dup | XP_011538066.1:p.Ala355SerfsTer20 | |
| XM_011539765.2:c.999dup | XP_011538067.1:p.Ala334SerfsTer20 | |
| XM_011539766.2:c.981dup | XP_011538068.1:p.Ala328SerfsTer20 | |
| XM_011539767.3:c.945dup | XP_011538069.1:p.Ala316SerfsTer20 | |
| XR_945732.3:n.968dup | ||
| XR_945733.2:n.905dup | ||
| NM_000043.6:c.900dup MANE Select | NP_000034.1:p.Ala301SerfsTer20 | |
| NM_001320619.2:c.*223dup | NP_001307548.1:n.*223dup | |
| NM_152871.4:c.837dup | NP_690610.1:p.Ala280SerfsTer20 | |
| NM_152872.4:c.*212dup | NP_690611.1:n.*212dup | |
| NR_028033.4:n.807dup | ||
| NR_028034.4:n.669dup | ||
| NR_028035.4:n.732dup | ||
| NR_028036.4:n.870dup | ||
| NR_135313.2:n.787dup | ||
| NR_135314.2:n.1066dup | ||
| NR_135315.2:n.819dup |