Linked Data
dbSNP Id:
rs1241608406
gnomAD v2:
11-17434083-CTCTGGCAGGAGGGATTTACT-C
gnomAD v3:
11-17412536-CTCTGGCAGGAGGGATTTACT-C
gnomAD v4:
11-17412536-CTCTGGCAGGAGGGATTTACT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17412537_17412556del , CM000673.2:g.17412537_17412556del | GRCh38 |
| NC_000011.9:g.17434084_17434103del , CM000673.1:g.17434084_17434103del | GRCh37 |
| NC_000011.8:g.17390660_17390679del | NCBI36 |
| NG_008867.1:g.69347_69366del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2225+110_2225+129del | ||
| ENST00000529967.6:n.815+110_815+129del | ||
| ENST00000642611.2:n.2625+110_2625+129del | ||
| ENST00000682051.1:n.2572+110_2572+129del | ||
| ENST00000682110.1:n.2625+110_2625+129del | ||
| ENST00000682140.1:c.2553+110_2553+129del | ENSP00000507829.1:n.2553+110_2553+129del | |
| ENST00000682185.1:n.3861+110_3861+129del | ||
| ENST00000682204.1:c.*694+110_*694+129del | ENSP00000507094.1:n.*694+110_*694+129del | |
| ENST00000682215.1:n.2622+110_2622+129del | ||
| ENST00000682288.1:c.*987+110_*987+129del | ENSP00000507506.1:n.*987+110_*987+129del | |
| ENST00000682442.1:n.2746+110_2746+129del | ||
| ENST00000682528.1:n.2622+110_2622+129del | ||
| ENST00000682673.1:n.2569+110_2569+129del | ||
| ENST00000682805.1:n.2622+110_2622+129del | ||
| ENST00000682965.1:c.2553+110_2553+129del | ENSP00000508229.1:n.2553+110_2553+129del | |
| ENST00000683093.1:n.2724+110_2724+129del | ||
| ENST00000683136.1:c.2553+110_2553+129del | ENSP00000507768.1:n.2553+110_2553+129del | |
| ENST00000683153.1:n.2781+110_2781+129del | ||
| ENST00000683365.1:n.2727+110_2727+129del | ||
| ENST00000683377.1:n.2625+110_2625+129del | ||
| ENST00000683456.1:c.2556+110_2556+129del | ENSP00000508318.1:n.2556+110_2556+129del | |
| ENST00000683522.1:n.2625+110_2625+129del | ||
| ENST00000683562.1:c.*725+110_*725+129del | ENSP00000508265.1:n.*725+110_*725+129del | |
| ENST00000683693.1:n.2622+110_2622+129del | ||
| ENST00000683725.1:c.2556+110_2556+129del | ENSP00000507496.1:n.2556+110_2556+129del | |
| ENST00000684010.1:n.2540+110_2540+129del | ||
| ENST00000684157.1:n.2625+110_2625+129del | ||
| ENST00000684253.1:n.2528+110_2528+129del | ||
| ENST00000684288.1:c.*728+110_*728+129del | ENSP00000507143.1:n.*728+110_*728+129del | |
| ENST00000684313.1:n.2057+110_2057+129del | ||
| ENST00000684332.1:n.2698+110_2698+129del | ||
| ENST00000684371.1:n.2731+110_2731+129del | ||
| ENST00000684404.1:n.2622+110_2622+129del | ||
| ENST00000684442.1:n.2625+110_2625+129del | ||
| ENST00000684555.1:c.*768+110_*768+129del | ENSP00000507705.1:n.*768+110_*768+129del | |
| ENST00000684571.1:c.2397+110_2397+129del | ENSP00000506935.1:n.2397+110_2397+129del | |
| ENST00000684593.1:c.*2261+110_*2261+129del | ENSP00000507005.1:n.*2261+110_*2261+129del | |
| ENST00000684711.1:c.*952+110_*952+129del | ENSP00000506841.1:n.*952+110_*952+129del | |
| ENST00000302539.9:c.2559+110_2559+129del | ENSP00000303960.4:n.2559+110_2559+129del | |
| ENST00000389817.8:c.2556+110_2556+129del MANE Select | ENSP00000374467.4:n.2556+110_2556+129del | |
| ENST00000642271.1:c.2553+110_2553+129del | ENSP00000493749.1:n.2553+110_2553+129del | |
| ENST00000642579.1:c.640+110_640+129del | ||
| ENST00000642611.1:n.2510+110_2510+129del | ||
| ENST00000642902.1:c.2391+110_2391+129del | ||
| ENST00000643260.1:c.2556+110_2556+129del | ENSP00000494450.1:n.2556+110_2556+129del | |
| ENST00000643562.1:c.*532+110_*532+129del | ENSP00000496124.1:n.*532+110_*532+129del | |
| ENST00000643925.1:c.600+110_600+129del | ||
| ENST00000644447.1:c.912+110_912+129del | ENSP00000496282.1:n.912+110_912+129del | |
| ENST00000644472.1:c.*917+110_*917+129del | ENSP00000495378.1:n.*917+110_*917+129del | |
| ENST00000644484.1:c.*765+110_*765+129del | ENSP00000493558.1:n.*765+110_*765+129del | |
| ENST00000644542.1:c.*2261+110_*2261+129del | ENSP00000495532.1:n.*2261+110_*2261+129del | |
| ENST00000644675.1:c.*728+110_*728+129del | ENSP00000494567.1:n.*728+110_*728+129del | |
| ENST00000644757.1:c.*861+110_*861+129del | ENSP00000495085.1:n.*861+110_*861+129del | |
| ENST00000644772.1:c.2622+110_2622+129del | ENSP00000494321.1:n.2622+110_2622+129del | |
| ENST00000645076.1:c.1808+110_1808+129del | ||
| ENST00000645744.1:c.*920+110_*920+129del | ENSP00000494564.1:n.*920+110_*920+129del | |
| ENST00000645760.1:c.2831+110_2831+129del | ||
| ENST00000645884.1:c.2556+110_2556+129del | ENSP00000495516.1:n.2556+110_2556+129del | |
| ENST00000646003.1:c.*612+110_*612+129del | ENSP00000495259.1:n.*612+110_*612+129del | |
| ENST00000646207.1:c.*920+110_*920+129del | ENSP00000495025.1:n.*920+110_*920+129del | |
| ENST00000646276.1:c.*829+110_*829+129del | ENSP00000496070.1:n.*829+110_*829+129del | |
| ENST00000646592.1:c.1782+110_1782+129del | ||
| ENST00000646902.1:c.2553+110_2553+129del | ENSP00000494101.1:n.2553+110_2553+129del | |
| ENST00000646993.1:c.*952+110_*952+129del | ENSP00000493720.1:n.*952+110_*952+129del | |
| ENST00000647013.1:c.2562+110_2562+129del | ENSP00000496741.1:n.2562+110_2562+129del | |
| ENST00000647015.1:c.2307+110_2307+129del | ENSP00000495389.1:n.2307+110_2307+129del | |
| ENST00000647086.1:c.*2286+110_*2286+129del | ENSP00000493677.1:n.*2286+110_*2286+129del | |
| ENST00000647158.1:c.*697+110_*697+129del | ENSP00000495744.1:n.*697+110_*697+129del | |
| ENST00000302539.8:c.2559+110_2559+129del | ENSP00000303960.4:n.2559+110_2559+129del | |
| ENST00000389817.7:c.2556+110_2556+129del | ENSP00000374467.3:n.2556+110_2556+129del | |
| ENST00000526921.5:n.240+110_240+129del | ||
| ENST00000527905.5:c.2526+110_2526+129del | ENSP00000431653.1:n.2526+110_2526+129del | |
| ENST00000529967.5:n.225+110_225+129del | ||
| ENST00000530147.5:n.139+110_139+129del | ||
| ENST00000531911.1:n.670+110_670+129del | ||
| NM_000352.4:c.2556+110_2556+129del | NP_000343.2:n.2556+110_2556+129del | |
| NM_001287174.1:c.2559+110_2559+129del | NP_001274103.1:n.2559+110_2559+129del | |
| XM_011520331.1:c.2556+110_2556+129del | XP_011518633.1:n.2556+110_2556+129del | |
| XM_011520332.1:c.2559+110_2559+129del | XP_011518634.1:n.2559+110_2559+129del | |
| XM_011520333.1:c.1056+110_1056+129del | XP_011518635.1:n.1056+110_1056+129del | |
| XM_011520334.1:c.2559+110_2559+129del | XP_011518636.1:n.2559+110_2559+129del | |
| XR_930890.1:n.2622+110_2622+129del | ||
| XR_930891.1:n.2622+110_2622+129del | ||
| XR_930892.1:n.2622+110_2622+129del | ||
| XR_930893.1:n.2619+110_2619+129del | ||
| NM_001351295.1:c.2622+110_2622+129del | NP_001338224.1:n.2622+110_2622+129del | |
| NM_001351296.1:c.2556+110_2556+129del | NP_001338225.1:n.2556+110_2556+129del | |
| NM_001351297.1:c.2553+110_2553+129del | NP_001338226.1:n.2553+110_2553+129del | |
| NR_147094.1:n.2625+110_2625+129del | ||
| XM_017018197.2:c.2625+110_2625+129del | XP_016873686.1:n.2625+110_2625+129del | |
| XM_017018199.1:c.2622+110_2622+129del | XP_016873688.1:n.2622+110_2622+129del | |
| XM_017018201.2:c.2625+110_2625+129del | XP_016873690.1:n.2625+110_2625+129del | |
| XM_017018202.1:c.1122+110_1122+129del | XP_016873691.1:n.1122+110_1122+129del | |
| XM_017018204.1:c.513+110_513+129del | XP_016873693.1:n.513+110_513+129del | |
| XM_024448668.1:c.924+110_924+129del | XP_024304436.1:n.924+110_924+129del | |
| XR_001747945.2:n.2697+110_2697+129del | ||
| XR_001747946.2:n.2628+110_2628+129del | ||
| XR_002957189.1:n.2697+110_2697+129del | ||
| NM_000352.6:c.2556+110_2556+129del MANE Select | NP_000343.2:n.2556+110_2556+129del | |
| NM_001287174.2:c.2559+110_2559+129del | NP_001274103.1:n.2559+110_2559+129del | |
| NM_001351295.2:c.2622+110_2622+129del | NP_001338224.1:n.2622+110_2622+129del | |
| NM_001351296.2:c.2556+110_2556+129del | NP_001338225.1:n.2556+110_2556+129del | |
| NM_001351297.2:c.2553+110_2553+129del | NP_001338226.1:n.2553+110_2553+129del | |
| NR_147094.2:n.2625+110_2625+129del | ||
| NM_001287174.3:c.2559+110_2559+129del | NP_001274103.1:n.2559+110_2559+129del |