Linked Data
ClinVar Variation Id:
196880
dbSNP Id:
rs151344624
ExAC:
11:17417434 GAGA / G
gnomAD v2:
11-17417434-GAGA-G
gnomAD v3:
11-17395887-GAGA-G
gnomAD v4:
11-17395887-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395890_17395892del , CM000673.2:g.17395890_17395892del | GRCh38 |
| NC_000011.9:g.17417437_17417439del , CM000673.1:g.17417437_17417439del | GRCh37 |
| NC_000011.8:g.17374013_17374015del | NCBI36 |
| NG_008867.1:g.86013_86015del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3761_3763del | ||
| ENST00000528374.2:c.751_753del | ||
| ENST00000529967.6:n.2499_2501del | ||
| ENST00000532220.2:n.3393_3395del | ||
| ENST00000642611.2:n.5360_5362del | ||
| ENST00000644057.2:n.603_605del | ||
| ENST00000645004.2:n.1659_1661del | ||
| ENST00000682051.1:n.4322_4324del | ||
| ENST00000682110.1:n.4375_4377del | ||
| ENST00000682140.1:c.4026_4028del | ENSP00000507829.1:p.Leu1343del | |
| ENST00000682185.1:n.5465_5467del | ||
| ENST00000682204.1:c.*2298_*2300del | ENSP00000507094.1:n.*2298_*2300del | |
| ENST00000682215.1:n.4742_4744del | ||
| ENST00000682288.1:c.*2591_*2593del | ENSP00000507506.1:n.*2591_*2593del | |
| ENST00000682442.1:n.4595_4597del | ||
| ENST00000682528.1:n.4452_4454del | ||
| ENST00000682673.1:n.4319_4321del | ||
| ENST00000682805.1:n.4780_4782del | ||
| ENST00000682965.1:c.*582_*584del | ENSP00000508229.1:n.*582_*584del | |
| ENST00000683093.1:n.5459_5461del | ||
| ENST00000683136.1:c.4043_4045del | ENSP00000507768.1:p.Phe1348del | |
| ENST00000683153.1:n.4417_4419del | ||
| ENST00000683365.1:n.4477_4479del | ||
| ENST00000683377.1:n.4375_4377del | ||
| ENST00000683456.1:c.*1297_*1299del | ENSP00000508318.1:n.*1297_*1299del | |
| ENST00000683522.1:n.4375_4377del | ||
| ENST00000683562.1:c.*2329_*2331del | ENSP00000508265.1:n.*2329_*2331del | |
| ENST00000683693.1:n.5807_5809del | ||
| ENST00000683725.1:c.4160_4162del | ENSP00000507496.1:p.Phe1387del | |
| ENST00000684010.1:n.4370_4372del | ||
| ENST00000684157.1:n.5360_5362del | ||
| ENST00000684253.1:n.4278_4280del | ||
| ENST00000684288.1:c.*2332_*2334del | ENSP00000507143.1:n.*2332_*2334del | |
| ENST00000684313.1:n.3807_3809del | ||
| ENST00000684332.1:n.4448_4450del | ||
| ENST00000684371.1:n.4481_4483del | ||
| ENST00000684404.1:n.5403_5405del | ||
| ENST00000684442.1:n.4599_4601del | ||
| ENST00000684555.1:c.*2372_*2374del | ENSP00000507705.1:n.*2372_*2374del | |
| ENST00000684571.1:c.4001_4003del | ENSP00000506935.1:p.Phe1334del | |
| ENST00000684593.1:c.*3865_*3867del | ENSP00000507005.1:n.*3865_*3867del | |
| ENST00000684711.1:c.*2556_*2558del | ENSP00000506841.1:n.*2556_*2558del | |
| ENST00000302539.9:c.4163_4165del | ENSP00000303960.4:p.Phe1388del | |
| ENST00000389817.8:c.4160_4162del MANE Select | ENSP00000374467.4:p.Phe1387del | |
| ENST00000642271.1:c.4157_4159del | ENSP00000493749.1:p.Phe1386del | |
| ENST00000642579.1:c.2214_2216del | ||
| ENST00000642611.1:n.5245_5247del | ||
| ENST00000642902.1:c.3942_3944del | ||
| ENST00000643260.1:c.4160_4162del | ENSP00000494450.1:p.Phe1387del | |
| ENST00000643562.1:c.*2282_*2284del | ENSP00000496124.1:n.*2282_*2284del | |
| ENST00000643925.1:c.2800_2802del | ||
| ENST00000644057.1:n.237_239del | ||
| ENST00000644484.1:c.*3546_*3548del | ENSP00000493558.1:n.*3546_*3548del | |
| ENST00000644675.1:c.*2332_*2334del | ENSP00000494567.1:n.*2332_*2334del | |
| ENST00000644757.1:c.*3202+374_*3202+376del | ENSP00000495085.1:n.*3202+374_*3202+376de... | |
| ENST00000644772.1:c.4226_4228del | ENSP00000494321.1:p.Phe1409del | |
| ENST00000645004.1:n.1853_1855del | ||
| ENST00000645076.1:c.3359_3361del | ||
| ENST00000645417.1:c.1348_1350del | ||
| ENST00000645744.1:c.*3925_*3927del | ENSP00000494564.1:n.*3925_*3927del | |
| ENST00000645760.1:c.4581_4583del | ||
| ENST00000645884.1:c.*1443_*1445del | ENSP00000495516.1:n.*1443_*1445del | |
| ENST00000646003.1:c.*2262_*2264del | ENSP00000495259.1:n.*2262_*2264del | |
| ENST00000646207.1:c.*2997_*2999del | ENSP00000495025.1:n.*2997_*2999del | |
| ENST00000646276.1:c.*3564_*3566del | ENSP00000496070.1:n.*3564_*3566del | |
| ENST00000646592.1:c.3466_3468del | ||
| ENST00000646902.1:c.4127_4129del | ENSP00000494101.1:p.Phe1376del | |
| ENST00000646993.1:c.*2702_*2704del | ENSP00000493720.1:n.*2702_*2704del | |
| ENST00000647013.1:c.4166_4168del | ENSP00000496741.1:n.4166_4168del | |
| ENST00000647015.1:c.3911_3913del | ENSP00000495389.1:p.Phe1304del | |
| ENST00000647086.1:c.*3746_*3748del | ENSP00000493677.1:n.*3746_*3748del | |
| ENST00000647158.1:c.*2447_*2449del | ENSP00000495744.1:n.*2447_*2449del | |
| ENST00000302539.8:c.4163_4165del | ENSP00000303960.4:p.Phe1388del | |
| ENST00000389817.7:c.4160_4162del | ENSP00000374467.3:p.Phe1387del | |
| ENST00000525022.1:n.26_28del | ||
| ENST00000526168.5:c.28_30del | ||
| NM_000352.4:c.4160_4162del | NP_000343.2:p.Phe1387del | |
| NM_001287174.1:c.4163_4165del | NP_001274103.1:p.Phe1388del | |
| XM_011520331.1:c.4160_4162del | XP_011518633.1:p.Phe1387del | |
| XM_011520332.1:c.4163_4165del | XP_011518634.1:p.Phe1388del | |
| XM_011520333.1:c.2660_2662del | XP_011518635.1:p.Phe887del | |
| XR_930890.1:n.4226_4228del | ||
| NM_001351295.1:c.4226_4228del | NP_001338224.1:p.Phe1409del | |
| NM_001351296.1:c.4160_4162del | NP_001338225.1:p.Phe1387del | |
| NM_001351297.1:c.4157_4159del | NP_001338226.1:p.Phe1386del | |
| NR_147094.1:n.4455_4457del | ||
| XM_017018197.2:c.4229_4231del | XP_016873686.1:p.Phe1410del | |
| XM_017018199.1:c.4226_4228del | XP_016873688.1:p.Phe1409del | |
| XM_017018201.2:c.4229_4231del | XP_016873690.1:p.Phe1410del | |
| XM_017018202.1:c.2726_2728del | XP_016873691.1:p.Phe909del | |
| XM_017018204.1:c.2117_2119del | XP_016873693.1:p.Phe706del | |
| XM_024448668.1:c.2528_2530del | XP_024304436.1:p.Phe843del | |
| XR_001747945.2:n.4301_4303del | ||
| XR_001747946.2:n.4232_4234del | ||
| XR_002957189.1:n.5882_5884del | ||
| NM_000352.6:c.4160_4162del MANE Select | NP_000343.2:p.Phe1387del | |
| NM_001287174.2:c.4163_4165del | NP_001274103.1:p.Phe1388del | |
| NM_001351295.2:c.4226_4228del | NP_001338224.1:p.Phe1409del | |
| NM_001351296.2:c.4160_4162del | NP_001338225.1:p.Phe1387del | |
| NM_001351297.2:c.4157_4159del | NP_001338226.1:p.Phe1386del | |
| NR_147094.2:n.4455_4457del | ||
| NM_001287174.3:c.4163_4165del | NP_001274103.1:p.Phe1388del |