Linked Data
dbSNP Id:
rs780487470
ExAC:
11:17432139 A / AG
gnomAD v2:
11-17432139-A-AG
gnomAD v4:
11-17410592-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17410594dup , CM000673.2:g.17410594dup | GRCh38 |
| NC_000011.9:g.17432141dup , CM000673.1:g.17432141dup | GRCh37 |
| NC_000011.8:g.17388717dup | NCBI36 |
| NG_008867.1:g.71310dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2286dup | ||
| ENST00000529967.6:n.876dup | ||
| ENST00000642611.2:n.2686dup | ||
| ENST00000682051.1:n.2633dup | ||
| ENST00000682110.1:n.2686dup | ||
| ENST00000682140.1:c.2614dup | ENSP00000507829.1:p.Leu872ProfsTer2 | |
| ENST00000682185.1:n.3922dup | ||
| ENST00000682204.1:c.*755dup | ENSP00000507094.1:n.*755dup | |
| ENST00000682215.1:n.2683dup | ||
| ENST00000682288.1:c.*1048dup | ENSP00000507506.1:n.*1048dup | |
| ENST00000682442.1:n.2807dup | ||
| ENST00000682528.1:n.2683dup | ||
| ENST00000682673.1:n.2630dup | ||
| ENST00000682805.1:n.2683dup | ||
| ENST00000682965.1:c.2614dup | ENSP00000508229.1:p.Leu872ProfsTer2 | |
| ENST00000683093.1:n.2785dup | ||
| ENST00000683136.1:c.2614dup | ENSP00000507768.1:p.Leu872ProfsTer2 | |
| ENST00000683153.1:n.2842dup | ||
| ENST00000683365.1:n.2788dup | ||
| ENST00000683377.1:n.2686dup | ||
| ENST00000683456.1:c.2617dup | ENSP00000508318.1:p.Leu873ProfsTer2 | |
| ENST00000683522.1:n.2686dup | ||
| ENST00000683562.1:c.*786dup | ENSP00000508265.1:n.*786dup | |
| ENST00000683693.1:n.2683dup | ||
| ENST00000683725.1:c.2617dup | ENSP00000507496.1:p.Leu873ProfsTer2 | |
| ENST00000684010.1:n.2601dup | ||
| ENST00000684157.1:n.2686dup | ||
| ENST00000684253.1:n.2589dup | ||
| ENST00000684288.1:c.*789dup | ENSP00000507143.1:n.*789dup | |
| ENST00000684313.1:n.2118dup | ||
| ENST00000684332.1:n.2759dup | ||
| ENST00000684371.1:n.2792dup | ||
| ENST00000684404.1:n.2683dup | ||
| ENST00000684442.1:n.2686dup | ||
| ENST00000684555.1:c.*829dup | ENSP00000507705.1:n.*829dup | |
| ENST00000684571.1:c.2458dup | ENSP00000506935.1:p.Leu820ProfsTer2 | |
| ENST00000684593.1:c.*2322dup | ENSP00000507005.1:n.*2322dup | |
| ENST00000684711.1:c.*1013dup | ENSP00000506841.1:n.*1013dup | |
| ENST00000302539.9:c.2620dup | ENSP00000303960.4:p.Leu874ProfsTer2 | |
| ENST00000389817.8:c.2617dup MANE Select | ENSP00000374467.4:p.Leu873ProfsTer2 | |
| ENST00000642271.1:c.2614dup | ENSP00000493749.1:p.Leu872ProfsTer2 | |
| ENST00000642579.1:c.701dup | ||
| ENST00000642611.1:n.2571dup | ||
| ENST00000642902.1:c.2452dup | ||
| ENST00000643260.1:c.2617dup | ENSP00000494450.1:p.Leu873ProfsTer2 | |
| ENST00000643562.1:c.*593dup | ENSP00000496124.1:n.*593dup | |
| ENST00000643925.1:c.661dup | ||
| ENST00000644447.1:c.973dup | ENSP00000496282.1:p.Leu325ProfsTer2 | |
| ENST00000644472.1:c.*978dup | ENSP00000495378.1:n.*978dup | |
| ENST00000644484.1:c.*826dup | ENSP00000493558.1:n.*826dup | |
| ENST00000644542.1:c.*2322dup | ENSP00000495532.1:n.*2322dup | |
| ENST00000644675.1:c.*789dup | ENSP00000494567.1:n.*789dup | |
| ENST00000644757.1:c.*922dup | ENSP00000495085.1:n.*922dup | |
| ENST00000644772.1:c.2683dup | ENSP00000494321.1:p.Leu895ProfsTer2 | |
| ENST00000645076.1:c.1869dup | ||
| ENST00000645744.1:c.*981dup | ENSP00000494564.1:n.*981dup | |
| ENST00000645760.1:c.2892dup | ||
| ENST00000645884.1:c.2617dup | ENSP00000495516.1:p.Leu873ProfsTer2 | |
| ENST00000646003.1:c.*673dup | ENSP00000495259.1:n.*673dup | |
| ENST00000646207.1:c.*981dup | ENSP00000495025.1:n.*981dup | |
| ENST00000646276.1:c.*890dup | ENSP00000496070.1:n.*890dup | |
| ENST00000646592.1:c.1843dup | ||
| ENST00000646902.1:c.2614dup | ENSP00000494101.1:p.Leu872ProfsTer2 | |
| ENST00000646993.1:c.*1013dup | ENSP00000493720.1:n.*1013dup | |
| ENST00000647013.1:c.2623dup | ENSP00000496741.1:n.2623dup | |
| ENST00000647015.1:c.2368dup | ENSP00000495389.1:p.Leu790ProfsTer2 | |
| ENST00000647086.1:c.*2347dup | ENSP00000493677.1:n.*2347dup | |
| ENST00000647158.1:c.*758dup | ENSP00000495744.1:n.*758dup | |
| ENST00000302539.8:c.2620dup | ENSP00000303960.4:p.Leu874ProfsTer2 | |
| ENST00000389817.7:c.2617dup | ENSP00000374467.3:p.Leu873ProfsTer2 | |
| ENST00000526921.5:n.301dup | ||
| ENST00000527905.5:c.2587dup | ENSP00000431653.1:p.Leu863ProfsTer2 | |
| ENST00000529967.5:n.286dup | ||
| ENST00000530147.5:n.200dup | ||
| NM_000352.4:c.2617dup | NP_000343.2:p.Leu873ProfsTer2 | |
| NM_001287174.1:c.2620dup | NP_001274103.1:p.Leu874ProfsTer2 | |
| XM_011520331.1:c.2617dup | XP_011518633.1:p.Leu873ProfsTer2 | |
| XM_011520332.1:c.2620dup | XP_011518634.1:p.Leu874ProfsTer2 | |
| XM_011520333.1:c.1117dup | XP_011518635.1:p.Leu373ProfsTer2 | |
| XM_011520334.1:c.2620dup | XP_011518636.1:p.Leu874ProfsTer2 | |
| XR_930890.1:n.2683dup | ||
| XR_930891.1:n.2683dup | ||
| XR_930892.1:n.2683dup | ||
| XR_930893.1:n.2680dup | ||
| NM_001351295.1:c.2683dup | NP_001338224.1:p.Leu895ProfsTer2 | |
| NM_001351296.1:c.2617dup | NP_001338225.1:p.Leu873ProfsTer2 | |
| NM_001351297.1:c.2614dup | NP_001338226.1:p.Leu872ProfsTer2 | |
| NR_147094.1:n.2686dup | ||
| XM_017018197.2:c.2686dup | XP_016873686.1:p.Leu896ProfsTer2 | |
| XM_017018199.1:c.2683dup | XP_016873688.1:p.Leu895ProfsTer2 | |
| XM_017018201.2:c.2686dup | XP_016873690.1:p.Leu896ProfsTer2 | |
| XM_017018202.1:c.1183dup | XP_016873691.1:p.Leu395ProfsTer2 | |
| XM_017018204.1:c.574dup | XP_016873693.1:p.Leu192ProfsTer2 | |
| XM_024448668.1:c.985dup | XP_024304436.1:p.Leu329ProfsTer2 | |
| XR_001747945.2:n.2758dup | ||
| XR_001747946.2:n.2689dup | ||
| XR_002957189.1:n.2758dup | ||
| NM_000352.6:c.2617dup MANE Select | NP_000343.2:p.Leu873ProfsTer2 | |
| NM_001287174.2:c.2620dup | NP_001274103.1:p.Leu874ProfsTer2 | |
| NM_001351295.2:c.2683dup | NP_001338224.1:p.Leu895ProfsTer2 | |
| NM_001351296.2:c.2617dup | NP_001338225.1:p.Leu873ProfsTer2 | |
| NM_001351297.2:c.2614dup | NP_001338226.1:p.Leu872ProfsTer2 | |
| NR_147094.2:n.2686dup | ||
| NM_001287174.3:c.2620dup | NP_001274103.1:p.Leu874ProfsTer2 |