Linked Data
dbSNP Id:
rs766079292
ExAC:
10:55583090 T / TTTG
gnomAD v2:
10-55583090-T-TTTG
gnomAD v4:
10-53823330-T-TTTG
MyVariant Identifiers:
chr10:g.55583090_55583091insTTG (hg19)
chr10:g.53823330_53823331insTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53823334_53823336dup , CM000672.2:g.53823334_53823336dup | GRCh38 |
| NC_000010.10:g.55583094_55583096dup , CM000672.1:g.55583094_55583096dup | GRCh37 |
| NC_000010.9:g.55253100_55253102dup | NCBI36 |
| NG_009191.2:g.982959_982961dup | |
| NG_009191.3:g.1810850_1810852dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+1803_4409+1805dup | ENSP00000482794.1:n.4409+1803_4409+1805dup | |
| ENST00000320301.11:c.4393_4395dup MANE Plus Clinical | ENSP00000322604.6:p.Gln1465_Ser1466insGln | |
| ENST00000395445.6:c.4388+4060_4388+4062dup | ENSP00000378832.2:n.4388+4060_4388+4062dup | |
| ENST00000613657.5:c.4409+1803_4409+1805dup | ENSP00000482794.1:n.4409+1803_4409+1805dup | |
| ENST00000642496.1:c.3227-3103_3227-3101dup | ||
| ENST00000644397.2:c.4368-3103_4368-3101dup MANE Select | ENSP00000495195.1:n.4368-3103_4368-3101dup | |
| ENST00000320301.10:c.4393_4395dup | ENSP00000322604.6:p.Gln1465_Ser1466insGln | |
| ENST00000361849.7:c.4399_4401dup | ENSP00000354950.3:p.Gln1467_Ser1468insGln | |
| ENST00000373956.7:c.*2348_*2350dup | ENSP00000363067.4:n.*2348_*2350dup | |
| ENST00000373957.7:c.4414_4416dup | ENSP00000363068.4:p.Gln1472_Ser1473insGln | |
| ENST00000373965.6:c.4373+1803_4373+1805dup | ENSP00000363076.3:n.4373+1803_4373+1805dup | |
| ENST00000395430.5:c.4384_4386dup | ENSP00000378818.1:p.Gln1462_Ser1463insGln | |
| ENST00000395432.6:c.4273_4275dup | ENSP00000378820.2:p.Gln1425_Ser1426insGln | |
| ENST00000395433.5:c.4324_4326dup | ENSP00000378821.1:p.Gln1442_Ser1443insGln | |
| ENST00000395438.5:c.4371+4059_4371+4061dup | ENSP00000378826.2:n.4371+4059_4371+4061dup | |
| ENST00000395440.5:c.1306-13787_1306-13785dup | ENSP00000378827.1:n.1306-13787_1306-13785dup | |
| ENST00000395442.5:c.1099-13787_1099-13785dup | ENSP00000378829.1:n.1099-13787_1099-13785dup | |
| ENST00000395445.5:c.4388+4060_4388+4062dup | ENSP00000378832.2:n.4388+4060_4388+4062dup | |
| ENST00000395446.5:c.2092-13787_2092-13785dup | ENSP00000378833.1:n.2092-13787_2092-13785dup | |
| ENST00000409834.5:c.3206+1803_3206+1805dup | ENSP00000386693.1:n.3206+1803_3206+1805dup | |
| ENST00000414367.5:c.*447+4060_*447+4062dup | ENSP00000412531.1:n.*447+4060_*447+4062dup | |
| ENST00000414778.5:c.4370+4060_4370+4062dup | ENSP00000410304.2:n.4370+4060_4370+4062dup | |
| ENST00000437009.5:c.4186_4188dup | ENSP00000412628.2:p.Gln1396_Ser1397insGln | |
| ENST00000448885.5:c.*2354_*2356dup | ENSP00000412320.1:n.*2354_*2356dup | |
| ENST00000463095.2:n.1412_1414dup | ||
| ENST00000495484.5:c.462-5320_462-5318dup | ENSP00000480780.1:n.462-5320_462-5318dup | |
| ENST00000612394.4:c.4406+4060_4406+4062dup | ENSP00000482921.1:n.4406+4060_4406+4062dup | |
| ENST00000613657.4:c.4409+1803_4409+1805dup | ENSP00000482794.1:n.4409+1803_4409+1805dup | |
| ENST00000614895.4:c.4385+4060_4385+4062dup | ENSP00000478512.1:n.4385+4060_4385+4062dup | |
| ENST00000616114.4:c.4367+4060_4367+4062dup | ENSP00000483745.1:n.4367+4060_4367+4062dup | |
| ENST00000617051.4:c.4420_4422dup | ENSP00000484703.1:p.Gln1474_Ser1475insGln | |
| ENST00000617271.4:c.4373+1803_4373+1805dup | ENSP00000478076.1:n.4373+1803_4373+1805dup | |
| ENST00000618301.4:c.593+4060_593+4062dup | ENSP00000482780.1:n.593+4060_593+4062dup | |
| ENST00000621708.4:c.4388+1803_4388+1805dup | ENSP00000484454.1:n.4388+1803_4388+1805dup | |
| ENST00000622048.4:c.4192_4194dup | ENSP00000482329.1:p.Gln1398_Ser1399insGln | |
| NM_001142763.1:c.4414_4416dup | NP_001136235.1:p.Gln1472_Ser1473insGln | |
| NM_001142764.1:c.4399_4401dup | NP_001136236.1:p.Gln1467_Ser1468insGln | |
| NM_001142765.1:c.4186_4188dup | NP_001136237.1:p.Gln1396_Ser1397insGln | |
| NM_001142766.1:c.4384_4386dup | NP_001136238.1:p.Gln1462_Ser1463insGln | |
| NM_001142767.1:c.4273_4275dup | NP_001136239.1:p.Gln1425_Ser1426insGln | |
| NM_001142768.1:c.4333_4335dup | NP_001136240.1:p.Gln1445_Ser1446insGln | |
| NM_001142769.1:c.4409+1803_4409+1805dup | NP_001136241.1:n.4409+1803_4409+1805dup | |
| NM_001142770.1:c.4373+1803_4373+1805dup | NP_001136242.1:n.4373+1803_4373+1805dup | |
| NM_001142771.1:c.4388+1803_4388+1805dup | NP_001136243.1:n.4388+1803_4388+1805dup | |
| NM_001142772.1:c.4373+1803_4373+1805dup | NP_001136244.1:n.4373+1803_4373+1805dup | |
| NM_001142773.1:c.4324_4326dup | NP_001136245.1:p.Gln1442_Ser1443insGln | |
| NM_033056.3:c.4393_4395dup | NP_149045.3:p.Gln1465_Ser1466insGln | |
| NM_001142769.2:c.4409+1803_4409+1805dup | NP_001136241.1:n.4409+1803_4409+1805dup | |
| NM_001142770.2:c.4373+1803_4373+1805dup | NP_001136242.1:n.4373+1803_4373+1805dup | |
| NM_001354404.1:c.4327_4329dup | NP_001341333.1:p.Gln1443_Ser1444insGln | |
| NM_001354411.1:c.4388+4060_4388+4062dup | NP_001341340.1:n.4388+4060_4388+4062dup | |
| NM_001354420.1:c.4367+4060_4367+4062dup | NP_001341349.1:n.4367+4060_4367+4062dup | |
| NM_001354429.1:c.4367+4060_4367+4062dup | NP_001341358.1:n.4367+4060_4367+4062dup | |
| XM_017016573.2:c.4388+1803_4388+1805dup | XP_016872062.1:n.4388+1803_4388+1805dup | |
| XR_001747192.2:n.5406_5408dup | ||
| XR_001747193.2:n.5397_5399dup | ||
| NM_001142763.2:c.4414_4416dup | NP_001136235.1:p.Gln1472_Ser1473insGln | |
| NM_001142764.2:c.4399_4401dup | NP_001136236.1:p.Gln1467_Ser1468insGln | |
| NM_001142765.2:c.4186_4188dup | NP_001136237.1:p.Gln1396_Ser1397insGln | |
| NM_001142766.2:c.4384_4386dup | NP_001136238.1:p.Gln1462_Ser1463insGln | |
| NM_001142768.2:c.4333_4335dup | NP_001136240.1:p.Gln1445_Ser1446insGln | |
| NM_001142769.3:c.4409+1803_4409+1805dup | NP_001136241.1:n.4409+1803_4409+1805dup | |
| NM_001142770.3:c.4373+1803_4373+1805dup | NP_001136242.1:n.4373+1803_4373+1805dup | |
| NM_001142771.2:c.4388+1803_4388+1805dup | NP_001136243.1:n.4388+1803_4388+1805dup | |
| NM_001142772.2:c.4373+1803_4373+1805dup | NP_001136244.1:n.4373+1803_4373+1805dup | |
| NM_001142773.2:c.4324_4326dup | NP_001136245.1:p.Gln1442_Ser1443insGln | |
| NM_001354411.2:c.4388+4060_4388+4062dup | NP_001341340.1:n.4388+4060_4388+4062dup | |
| NM_001354420.2:c.4367+4060_4367+4062dup | NP_001341349.1:n.4367+4060_4367+4062dup | |
| NM_001354429.2:c.4367+4060_4367+4062dup | NP_001341358.1:n.4367+4060_4367+4062dup | |
| NM_033056.4:c.4393_4395dup MANE Plus Clinical | NP_149045.3:p.Gln1465_Ser1466insGln | |
| NM_001142767.2:c.4273_4275dup | NP_001136239.1:p.Gln1425_Ser1426insGln | |
| NM_001354404.2:c.4327_4329dup | NP_001341333.1:p.Gln1443_Ser1444insGln | |
| NM_001384140.1:c.4368-3103_4368-3101dup MANE Select | NP_001371069.1:n.4368-3103_4368-3101dup |