Linked Data
ClinVar Variation Id:
370948
dbSNP Id:
rs1057516890
MyVariant Identifiers:
chr11:g.17418509_17418510delinsA (hg19)
chr11:g.17396962_17396963delinsA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396962_17396963delinsA , CM000673.2:g.17396962_17396963delinsA | GRCh38 |
| NC_000011.9:g.17418509_17418510delinsA , CM000673.1:g.17418509_17418510delinsA | GRCh37 |
| NC_000011.8:g.17375085_17375086delinsA | NCBI36 |
| NG_008867.1:g.84940_84941delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3673_3674delinsT | ||
| ENST00000528374.2:c.663_664delinsT | ||
| ENST00000529967.6:n.2411_2412delinsT | ||
| ENST00000532220.2:n.2320_2321delinsT | ||
| ENST00000642611.2:n.4287_4288delinsT | ||
| ENST00000644057.2:n.515_516delinsT | ||
| ENST00000645004.2:n.1571_1572delinsT | ||
| ENST00000682051.1:n.4234_4235delinsT | ||
| ENST00000682110.1:n.4287_4288delinsT | ||
| ENST00000682140.1:c.3985+230_3985+231delinsT | ENSP00000507829.1:n.3985+230_3985+231deli... | |
| ENST00000682185.1:n.5377_5378delinsT | ||
| ENST00000682204.1:c.*2210_*2211delinsT | ENSP00000507094.1:n.*2210_*2211delinsT | |
| ENST00000682215.1:n.4654_4655delinsT | ||
| ENST00000682288.1:c.*2503_*2504delinsT | ENSP00000507506.1:n.*2503_*2504delinsT | |
| ENST00000682442.1:n.4507_4508delinsT | ||
| ENST00000682528.1:n.4364_4365delinsT | ||
| ENST00000682673.1:n.4231_4232delinsT | ||
| ENST00000682805.1:n.4654_4655delinsT | ||
| ENST00000682965.1:c.*494_*495delinsT | ENSP00000508229.1:n.*494_*495delinsT | |
| ENST00000683093.1:n.4386_4387delinsT | ||
| ENST00000683136.1:c.3955_3956delinsT | ENSP00000507768.1:p.Lys1319CysfsTer4 | |
| ENST00000683153.1:n.4329_4330delinsT | ||
| ENST00000683365.1:n.4389_4390delinsT | ||
| ENST00000683377.1:n.4287_4288delinsT | ||
| ENST00000683456.1:c.*1209_*1210delinsT | ENSP00000508318.1:n.*1209_*1210delinsT | |
| ENST00000683522.1:n.4287_4288delinsT | ||
| ENST00000683562.1:c.*2241_*2242delinsT | ENSP00000508265.1:n.*2241_*2242delinsT | |
| ENST00000683693.1:n.4734_4735delinsT | ||
| ENST00000683725.1:c.4072_4073delinsT | ENSP00000507496.1:p.Lys1358CysfsTer4 | |
| ENST00000684010.1:n.4282_4283delinsT | ||
| ENST00000684157.1:n.4287_4288delinsT | ||
| ENST00000684253.1:n.4190_4191delinsT | ||
| ENST00000684288.1:c.*2244_*2245delinsT | ENSP00000507143.1:n.*2244_*2245delinsT | |
| ENST00000684313.1:n.3719_3720delinsT | ||
| ENST00000684332.1:n.4360_4361delinsT | ||
| ENST00000684371.1:n.4393_4394delinsT | ||
| ENST00000684404.1:n.4330_4331delinsT | ||
| ENST00000684442.1:n.4511_4512delinsT | ||
| ENST00000684555.1:c.*2284_*2285delinsT | ENSP00000507705.1:n.*2284_*2285delinsT | |
| ENST00000684571.1:c.3913_3914delinsT | ENSP00000506935.1:p.Lys1305CysfsTer4 | |
| ENST00000684593.1:c.*3777_*3778delinsT | ENSP00000507005.1:n.*3777_*3778delinsT | |
| ENST00000684711.1:c.*2468_*2469delinsT | ENSP00000506841.1:n.*2468_*2469delinsT | |
| ENST00000302539.9:c.4075_4076delinsT | ENSP00000303960.4:p.Lys1359CysfsTer4 | |
| ENST00000389817.8:c.4072_4073delinsT MANE Select | ENSP00000374467.4:p.Lys1358CysfsTer4 | |
| ENST00000642271.1:c.4069_4070delinsT | ENSP00000493749.1:p.Lys1357CysfsTer4 | |
| ENST00000642579.1:c.2126_2127delinsT | ||
| ENST00000642611.1:n.4172_4173delinsT | ||
| ENST00000642902.1:c.3854_3855delinsT | ||
| ENST00000643260.1:c.4072_4073delinsT | ENSP00000494450.1:p.Lys1358CysfsTer4 | |
| ENST00000643562.1:c.*2194_*2195delinsT | ENSP00000496124.1:n.*2194_*2195delinsT | |
| ENST00000643925.1:c.2712_2713delinsT | ||
| ENST00000644057.1:n.149_150delinsT | ||
| ENST00000644484.1:c.*2473_*2474delinsT | ENSP00000493558.1:n.*2473_*2474delinsT | |
| ENST00000644675.1:c.*2244_*2245delinsT | ENSP00000494567.1:n.*2244_*2245delinsT | |
| ENST00000644757.1:c.*2503_*2504delinsT | ENSP00000495085.1:n.*2503_*2504delinsT | |
| ENST00000644772.1:c.4138_4139delinsT | ENSP00000494321.1:p.Lys1380CysfsTer4 | |
| ENST00000645004.1:n.1727_1728delinsT | ||
| ENST00000645076.1:c.3271_3272delinsT | ||
| ENST00000645417.1:c.1260_1261delinsT | ||
| ENST00000645744.1:c.*2852_*2853delinsT | ENSP00000494564.1:n.*2852_*2853delinsT | |
| ENST00000645760.1:c.4493_4494delinsT | ||
| ENST00000645884.1:c.*1355_*1356delinsT | ENSP00000495516.1:n.*1355_*1356delinsT | |
| ENST00000646003.1:c.*2174_*2175delinsT | ENSP00000495259.1:n.*2174_*2175delinsT | |
| ENST00000646207.1:c.*2909_*2910delinsT | ENSP00000495025.1:n.*2909_*2910delinsT | |
| ENST00000646276.1:c.*2491_*2492delinsT | ENSP00000496070.1:n.*2491_*2492delinsT | |
| ENST00000646592.1:c.3378_3379delinsT | ||
| ENST00000646902.1:c.4039_4040delinsT | ENSP00000494101.1:p.Lys1347CysfsTer4 | |
| ENST00000646993.1:c.*2614_*2615delinsT | ENSP00000493720.1:n.*2614_*2615delinsT | |
| ENST00000647013.1:c.4078_4079delinsT | ENSP00000496741.1:n.4078_4079delinsT | |
| ENST00000647015.1:c.3823_3824delinsT | ENSP00000495389.1:p.Lys1275CysfsTer4 | |
| ENST00000647086.1:c.*3658_*3659delinsT | ENSP00000493677.1:n.*3658_*3659delinsT | |
| ENST00000647158.1:c.*2359_*2360delinsT | ENSP00000495744.1:n.*2359_*2360delinsT | |
| ENST00000302539.8:c.4075_4076delinsT | ENSP00000303960.4:p.Lys1359CysfsTer4 | |
| ENST00000389817.7:c.4072_4073delinsT | ENSP00000374467.3:p.Lys1358CysfsTer4 | |
| ENST00000527905.5:c.*1094_*1095delinsT | ENSP00000431653.1:n.*1094_*1095delinsT | |
| ENST00000528374.1:c.554_555delinsT | ||
| ENST00000531137.1:n.637_638delinsT | ||
| ENST00000531891.1:c.410_411delinsT | ||
| ENST00000532220.1:n.546_547delinsT | ||
| NM_000352.4:c.4072_4073delinsT | NP_000343.2:p.Lys1358CysfsTer4 | |
| NM_001287174.1:c.4075_4076delinsT | NP_001274103.1:p.Lys1359CysfsTer4 | |
| XM_011520331.1:c.4072_4073delinsT | XP_011518633.1:p.Lys1358CysfsTer4 | |
| XM_011520332.1:c.4075_4076delinsT | XP_011518634.1:p.Lys1359CysfsTer4 | |
| XM_011520333.1:c.2572_2573delinsT | XP_011518635.1:p.Lys858CysfsTer4 | |
| XR_930890.1:n.4138_4139delinsT | ||
| NM_001351295.1:c.4138_4139delinsT | NP_001338224.1:p.Lys1380CysfsTer4 | |
| NM_001351296.1:c.4072_4073delinsT | NP_001338225.1:p.Lys1358CysfsTer4 | |
| NM_001351297.1:c.4069_4070delinsT | NP_001338226.1:p.Lys1357CysfsTer4 | |
| NR_147094.1:n.4367_4368delinsT | ||
| XM_017018197.2:c.4141_4142delinsT | XP_016873686.1:p.Lys1381CysfsTer4 | |
| XM_017018199.1:c.4138_4139delinsT | XP_016873688.1:p.Lys1380CysfsTer4 | |
| XM_017018201.2:c.4141_4142delinsT | XP_016873690.1:p.Lys1381CysfsTer4 | |
| XM_017018202.1:c.2638_2639delinsT | XP_016873691.1:p.Lys880CysfsTer4 | |
| XM_017018204.1:c.2029_2030delinsT | XP_016873693.1:p.Lys677CysfsTer4 | |
| XM_024448668.1:c.2440_2441delinsT | XP_024304436.1:p.Lys814CysfsTer4 | |
| XR_001747945.2:n.4213_4214delinsT | ||
| XR_001747946.2:n.4144_4145delinsT | ||
| XR_002957189.1:n.4809_4810delinsT | ||
| NM_000352.6:c.4072_4073delinsT MANE Select | NP_000343.2:p.Lys1358CysfsTer4 | |
| NM_001287174.2:c.4075_4076delinsT | NP_001274103.1:p.Lys1359CysfsTer4 | |
| NM_001351295.2:c.4138_4139delinsT | NP_001338224.1:p.Lys1380CysfsTer4 | |
| NM_001351296.2:c.4072_4073delinsT | NP_001338225.1:p.Lys1358CysfsTer4 | |
| NM_001351297.2:c.4069_4070delinsT | NP_001338226.1:p.Lys1357CysfsTer4 | |
| NR_147094.2:n.4367_4368delinsT | ||
| NM_001287174.3:c.4075_4076delinsT | NP_001274103.1:p.Lys1359CysfsTer4 |