Linked Data
dbSNP Id:
rs769182584
MyVariant Identifiers:
chr10:g.55583086_55583087insTGCTT (hg19)
chr10:g.53823326_53823327insTGCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53823329_53823333dup , CM000672.2:g.53823329_53823333dup | GRCh38 |
| NC_000010.10:g.55583089_55583093dup , CM000672.1:g.55583089_55583093dup | GRCh37 |
| NC_000010.9:g.55253095_55253099dup | NCBI36 |
| NG_009191.2:g.982961_982965dup | |
| NG_009191.3:g.1810852_1810856dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+1805_4409+1809dup | ENSP00000482794.1:n.4409+1805_4409+1809dup | |
| ENST00000320301.11:c.4395_4399dup MANE Plus Clinical | ENSP00000322604.6:p.Arg1467LysfsTer18 | |
| ENST00000395445.6:c.4388+4062_4388+4066dup | ENSP00000378832.2:n.4388+4062_4388+4066dup | |
| ENST00000613657.5:c.4409+1805_4409+1809dup | ENSP00000482794.1:n.4409+1805_4409+1809dup | |
| ENST00000642496.1:c.3227-3101_3227-3097dup | ||
| ENST00000644397.2:c.4368-3101_4368-3097dup MANE Select | ENSP00000495195.1:n.4368-3101_4368-3097dup | |
| ENST00000320301.10:c.4395_4399dup | ENSP00000322604.6:p.Arg1467LysfsTer18 | |
| ENST00000361849.7:c.4401_4405dup | ENSP00000354950.3:p.Arg1469LysfsTer18 | |
| ENST00000373956.7:c.*2350_*2354dup | ENSP00000363067.4:n.*2350_*2354dup | |
| ENST00000373957.7:c.4416_4420dup | ENSP00000363068.4:p.Arg1474LysfsTer18 | |
| ENST00000373965.6:c.4373+1805_4373+1809dup | ENSP00000363076.3:n.4373+1805_4373+1809dup | |
| ENST00000395430.5:c.4386_4390dup | ENSP00000378818.1:p.Arg1464LysfsTer18 | |
| ENST00000395432.6:c.4275_4279dup | ENSP00000378820.2:p.Arg1427LysfsTer18 | |
| ENST00000395433.5:c.4326_4330dup | ENSP00000378821.1:p.Arg1444LysfsTer18 | |
| ENST00000395438.5:c.4371+4061_4371+4065dup | ENSP00000378826.2:n.4371+4061_4371+4065dup | |
| ENST00000395440.5:c.1306-13785_1306-13781dup | ENSP00000378827.1:n.1306-13785_1306-13781dup | |
| ENST00000395442.5:c.1099-13785_1099-13781dup | ENSP00000378829.1:n.1099-13785_1099-13781dup | |
| ENST00000395445.5:c.4388+4062_4388+4066dup | ENSP00000378832.2:n.4388+4062_4388+4066dup | |
| ENST00000395446.5:c.2092-13785_2092-13781dup | ENSP00000378833.1:n.2092-13785_2092-13781dup | |
| ENST00000409834.5:c.3206+1805_3206+1809dup | ENSP00000386693.1:n.3206+1805_3206+1809dup | |
| ENST00000414367.5:c.*447+4062_*447+4066dup | ENSP00000412531.1:n.*447+4062_*447+4066dup | |
| ENST00000414778.5:c.4370+4062_4370+4066dup | ENSP00000410304.2:n.4370+4062_4370+4066dup | |
| ENST00000437009.5:c.4188_4192dup | ENSP00000412628.2:p.Arg1398LysfsTer18 | |
| ENST00000448885.5:c.*2356_*2360dup | ENSP00000412320.1:n.*2356_*2360dup | |
| ENST00000463095.2:n.1414_1418dup | ||
| ENST00000495484.5:c.462-5318_462-5314dup | ENSP00000480780.1:n.462-5318_462-5314dup | |
| ENST00000612394.4:c.4406+4062_4406+4066dup | ENSP00000482921.1:n.4406+4062_4406+4066dup | |
| ENST00000613657.4:c.4409+1805_4409+1809dup | ENSP00000482794.1:n.4409+1805_4409+1809dup | |
| ENST00000614895.4:c.4385+4062_4385+4066dup | ENSP00000478512.1:n.4385+4062_4385+4066dup | |
| ENST00000616114.4:c.4367+4062_4367+4066dup | ENSP00000483745.1:n.4367+4062_4367+4066dup | |
| ENST00000617051.4:c.4422_4426dup | ENSP00000484703.1:p.Arg1476LysfsTer18 | |
| ENST00000617271.4:c.4373+1805_4373+1809dup | ENSP00000478076.1:n.4373+1805_4373+1809dup | |
| ENST00000618301.4:c.593+4062_593+4066dup | ENSP00000482780.1:n.593+4062_593+4066dup | |
| ENST00000621708.4:c.4388+1805_4388+1809dup | ENSP00000484454.1:n.4388+1805_4388+1809dup | |
| ENST00000622048.4:c.4194_4198dup | ENSP00000482329.1:p.Arg1400LysfsTer18 | |
| NM_001142763.1:c.4416_4420dup | NP_001136235.1:p.Arg1474LysfsTer18 | |
| NM_001142764.1:c.4401_4405dup | NP_001136236.1:p.Arg1469LysfsTer18 | |
| NM_001142765.1:c.4188_4192dup | NP_001136237.1:p.Arg1398LysfsTer18 | |
| NM_001142766.1:c.4386_4390dup | NP_001136238.1:p.Arg1464LysfsTer18 | |
| NM_001142767.1:c.4275_4279dup | NP_001136239.1:p.Arg1427LysfsTer18 | |
| NM_001142768.1:c.4335_4339dup | NP_001136240.1:p.Arg1447LysfsTer18 | |
| NM_001142769.1:c.4409+1805_4409+1809dup | NP_001136241.1:n.4409+1805_4409+1809dup | |
| NM_001142770.1:c.4373+1805_4373+1809dup | NP_001136242.1:n.4373+1805_4373+1809dup | |
| NM_001142771.1:c.4388+1805_4388+1809dup | NP_001136243.1:n.4388+1805_4388+1809dup | |
| NM_001142772.1:c.4373+1805_4373+1809dup | NP_001136244.1:n.4373+1805_4373+1809dup | |
| NM_001142773.1:c.4326_4330dup | NP_001136245.1:p.Arg1444LysfsTer18 | |
| NM_033056.3:c.4395_4399dup | NP_149045.3:p.Arg1467LysfsTer18 | |
| NM_001142769.2:c.4409+1805_4409+1809dup | NP_001136241.1:n.4409+1805_4409+1809dup | |
| NM_001142770.2:c.4373+1805_4373+1809dup | NP_001136242.1:n.4373+1805_4373+1809dup | |
| NM_001354404.1:c.4329_4333dup | NP_001341333.1:p.Arg1445LysfsTer18 | |
| NM_001354411.1:c.4388+4062_4388+4066dup | NP_001341340.1:n.4388+4062_4388+4066dup | |
| NM_001354420.1:c.4367+4062_4367+4066dup | NP_001341349.1:n.4367+4062_4367+4066dup | |
| NM_001354429.1:c.4367+4062_4367+4066dup | NP_001341358.1:n.4367+4062_4367+4066dup | |
| XM_017016573.2:c.4388+1805_4388+1809dup | XP_016872062.1:n.4388+1805_4388+1809dup | |
| XR_001747192.2:n.5408_5412dup | ||
| XR_001747193.2:n.5399_5403dup | ||
| NM_001142763.2:c.4416_4420dup | NP_001136235.1:p.Arg1474LysfsTer18 | |
| NM_001142764.2:c.4401_4405dup | NP_001136236.1:p.Arg1469LysfsTer18 | |
| NM_001142765.2:c.4188_4192dup | NP_001136237.1:p.Arg1398LysfsTer18 | |
| NM_001142766.2:c.4386_4390dup | NP_001136238.1:p.Arg1464LysfsTer18 | |
| NM_001142768.2:c.4335_4339dup | NP_001136240.1:p.Arg1447LysfsTer18 | |
| NM_001142769.3:c.4409+1805_4409+1809dup | NP_001136241.1:n.4409+1805_4409+1809dup | |
| NM_001142770.3:c.4373+1805_4373+1809dup | NP_001136242.1:n.4373+1805_4373+1809dup | |
| NM_001142771.2:c.4388+1805_4388+1809dup | NP_001136243.1:n.4388+1805_4388+1809dup | |
| NM_001142772.2:c.4373+1805_4373+1809dup | NP_001136244.1:n.4373+1805_4373+1809dup | |
| NM_001142773.2:c.4326_4330dup | NP_001136245.1:p.Arg1444LysfsTer18 | |
| NM_001354411.2:c.4388+4062_4388+4066dup | NP_001341340.1:n.4388+4062_4388+4066dup | |
| NM_001354420.2:c.4367+4062_4367+4066dup | NP_001341349.1:n.4367+4062_4367+4066dup | |
| NM_001354429.2:c.4367+4062_4367+4066dup | NP_001341358.1:n.4367+4062_4367+4066dup | |
| NM_033056.4:c.4395_4399dup MANE Plus Clinical | NP_149045.3:p.Arg1467LysfsTer18 | |
| NM_001142767.2:c.4275_4279dup | NP_001136239.1:p.Arg1427LysfsTer18 | |
| NM_001354404.2:c.4329_4333dup | NP_001341333.1:p.Arg1445LysfsTer18 | |
| NM_001384140.1:c.4368-3101_4368-3097dup MANE Select | NP_001371069.1:n.4368-3101_4368-3097dup |