ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17414595_17414607delinsTT , CM000673.2:g.17414595_17414607delinsTT | GRCh38 |
| NC_000011.9:g.17436142_17436154delinsTT , CM000673.1:g.17436142_17436154delinsTT | GRCh37 |
| NC_000011.8:g.17392718_17392730delinsTT | NCBI36 |
| NG_008867.1:g.67296_67308delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1964_1976delinsAA | ||
| ENST00000529967.6:n.554_566delinsAA | ||
| ENST00000642611.2:n.2364_2376delinsAA | ||
| ENST00000682051.1:n.2311_2323delinsAA | ||
| ENST00000682110.1:n.2364_2376delinsAA | ||
| ENST00000682140.1:c.2292_2304delinsAA | ENSP00000507829.1:p.Arg765SerfsTer21 | |
| ENST00000682185.1:n.3600_3612delinsAA | ||
| ENST00000682204.1:c.*433_*445delinsAA | ENSP00000507094.1:n.*433_*445delinsAA | |
| ENST00000682215.1:n.2361_2373delinsAA | ||
| ENST00000682288.1:c.*726_*738delinsAA | ENSP00000507506.1:n.*726_*738delinsAA | |
| ENST00000682442.1:n.2485_2497delinsAA | ||
| ENST00000682528.1:n.2361_2373delinsAA | ||
| ENST00000682673.1:n.2308_2320delinsAA | ||
| ENST00000682805.1:n.2361_2373delinsAA | ||
| ENST00000682965.1:c.2292_2304delinsAA | ENSP00000508229.1:p.Arg765SerfsTer21 | |
| ENST00000683093.1:n.2463_2475delinsAA | ||
| ENST00000683136.1:c.2292_2304delinsAA | ENSP00000507768.1:p.Arg765SerfsTer21 | |
| ENST00000683153.1:n.2520_2532delinsAA | ||
| ENST00000683365.1:n.2466_2478delinsAA | ||
| ENST00000683377.1:n.2364_2376delinsAA | ||
| ENST00000683456.1:c.2295_2307delinsAA | ENSP00000508318.1:p.Arg766SerfsTer21 | |
| ENST00000683522.1:n.2364_2376delinsAA | ||
| ENST00000683562.1:c.*464_*476delinsAA | ENSP00000508265.1:n.*464_*476delinsAA | |
| ENST00000683693.1:n.2361_2373delinsAA | ||
| ENST00000683725.1:c.2295_2307delinsAA | ENSP00000507496.1:p.Arg766SerfsTer21 | |
| ENST00000684010.1:n.2364_2376delinsAA | ||
| ENST00000684157.1:n.2364_2376delinsAA | ||
| ENST00000684253.1:n.2267_2279delinsAA | ||
| ENST00000684288.1:c.*467_*479delinsAA | ENSP00000507143.1:n.*467_*479delinsAA | |
| ENST00000684313.1:n.1796_1808delinsAA | ||
| ENST00000684332.1:n.2437_2449delinsAA | ||
| ENST00000684371.1:n.2470_2482delinsAA | ||
| ENST00000684404.1:n.2361_2373delinsAA | ||
| ENST00000684442.1:n.2364_2376delinsAA | ||
| ENST00000684555.1:c.*507_*519delinsAA | ENSP00000507705.1:n.*507_*519delinsAA | |
| ENST00000684571.1:c.2136_2148delinsAA | ENSP00000506935.1:p.Arg713SerfsTer21 | |
| ENST00000684593.1:c.*2000_*2012delinsAA | ENSP00000507005.1:n.*2000_*2012delinsAA | |
| ENST00000684711.1:c.*691_*703delinsAA | ENSP00000506841.1:n.*691_*703delinsAA | |
| ENST00000302539.9:c.2298_2310delinsAA | ENSP00000303960.4:p.Arg767SerfsTer21 | |
| ENST00000389817.8:c.2295_2307delinsAA MANE Select | ENSP00000374467.4:p.Arg766SerfsTer21 | |
| ENST00000642271.1:c.2292_2304delinsAA | ENSP00000493749.1:p.Arg765SerfsTer21 | |
| ENST00000642579.1:c.379_391delinsAA | ||
| ENST00000642611.1:n.2249_2261delinsAA | ||
| ENST00000642902.1:c.2130_2142delinsAA | ||
| ENST00000643260.1:c.2295_2307delinsAA | ENSP00000494450.1:p.Arg766SerfsTer21 | |
| ENST00000643562.1:c.*271_*283delinsAA | ENSP00000496124.1:n.*271_*283delinsAA | |
| ENST00000643925.1:c.235_247delinsAA | ||
| ENST00000644447.1:c.651_663delinsAA | ENSP00000496282.1:p.Arg218SerfsTer21 | |
| ENST00000644472.1:c.*656_*668delinsAA | ENSP00000495378.1:n.*656_*668delinsAA | |
| ENST00000644484.1:c.*504_*516delinsAA | ENSP00000493558.1:n.*504_*516delinsAA | |
| ENST00000644542.1:c.*2000_*2012delinsAA | ENSP00000495532.1:n.*2000_*2012delinsAA | |
| ENST00000644675.1:c.*467_*479delinsAA | ENSP00000494567.1:n.*467_*479delinsAA | |
| ENST00000644757.1:c.*600_*612delinsAA | ENSP00000495085.1:n.*600_*612delinsAA | |
| ENST00000644772.1:c.2361_2373delinsAA | ENSP00000494321.1:p.Arg788SerfsTer21 | |
| ENST00000645076.1:c.1547_1559delinsAA | ||
| ENST00000645744.1:c.*659_*671delinsAA | ENSP00000494564.1:n.*659_*671delinsAA | |
| ENST00000645760.1:c.2570_2582delinsAA | ||
| ENST00000645884.1:c.2295_2307delinsAA | ENSP00000495516.1:p.Arg766SerfsTer21 | |
| ENST00000646003.1:c.*436_*448delinsAA | ENSP00000495259.1:n.*436_*448delinsAA | |
| ENST00000646207.1:c.*659_*671delinsAA | ENSP00000495025.1:n.*659_*671delinsAA | |
| ENST00000646276.1:c.*568_*580delinsAA | ENSP00000496070.1:n.*568_*580delinsAA | |
| ENST00000646592.1:c.1521_1533delinsAA | ||
| ENST00000646902.1:c.2292_2304delinsAA | ENSP00000494101.1:p.Arg765SerfsTer21 | |
| ENST00000646993.1:c.*691_*703delinsAA | ENSP00000493720.1:n.*691_*703delinsAA | |
| ENST00000647013.1:c.2301_2313delinsAA | ENSP00000496741.1:n.2301_2313delinsAA | |
| ENST00000647015.1:c.2046_2058delinsAA | ENSP00000495389.1:p.Arg683SerfsTer21 | |
| ENST00000647086.1:c.*2025_*2037delinsAA | ENSP00000493677.1:n.*2025_*2037delinsAA | |
| ENST00000647158.1:c.*436_*448delinsAA | ENSP00000495744.1:n.*436_*448delinsAA | |
| ENST00000302539.8:c.2298_2310delinsAA | ENSP00000303960.4:p.Arg767SerfsTer21 | |
| ENST00000389817.7:c.2295_2307delinsAA | ENSP00000374467.3:p.Arg766SerfsTer21 | |
| ENST00000527905.5:c.2265_2277delinsAA | ENSP00000431653.1:p.Arg756SerfsTer21 | |
| ENST00000531911.1:n.409_421delinsAA | ||
| NM_000352.4:c.2295_2307delinsAA | NP_000343.2:p.Arg766SerfsTer21 | |
| NM_001287174.1:c.2298_2310delinsAA | NP_001274103.1:p.Arg767SerfsTer21 | |
| XM_011520331.1:c.2295_2307delinsAA | XP_011518633.1:p.Arg766SerfsTer21 | |
| XM_011520332.1:c.2298_2310delinsAA | XP_011518634.1:p.Arg767SerfsTer21 | |
| XM_011520333.1:c.795_807delinsAA | XP_011518635.1:p.Arg266SerfsTer21 | |
| XM_011520334.1:c.2298_2310delinsAA | XP_011518636.1:p.Arg767SerfsTer21 | |
| XR_930890.1:n.2361_2373delinsAA | ||
| XR_930891.1:n.2361_2373delinsAA | ||
| XR_930892.1:n.2361_2373delinsAA | ||
| XR_930893.1:n.2358_2370delinsAA | ||
| NM_001351295.1:c.2361_2373delinsAA | NP_001338224.1:p.Arg788SerfsTer21 | |
| NM_001351296.1:c.2295_2307delinsAA | NP_001338225.1:p.Arg766SerfsTer21 | |
| NM_001351297.1:c.2292_2304delinsAA | NP_001338226.1:p.Arg765SerfsTer21 | |
| NR_147094.1:n.2364_2376delinsAA | ||
| XM_017018197.2:c.2364_2376delinsAA | XP_016873686.1:p.Arg789SerfsTer21 | |
| XM_017018199.1:c.2361_2373delinsAA | XP_016873688.1:p.Arg788SerfsTer21 | |
| XM_017018201.2:c.2364_2376delinsAA | XP_016873690.1:p.Arg789SerfsTer21 | |
| XM_017018202.1:c.861_873delinsAA | XP_016873691.1:p.Arg288SerfsTer21 | |
| XM_017018204.1:c.252_264delinsAA | XP_016873693.1:p.Arg85SerfsTer21 | |
| XM_024448668.1:c.663_675delinsAA | XP_024304436.1:p.Arg222SerfsTer21 | |
| XR_001747945.2:n.2436_2448delinsAA | ||
| XR_001747946.2:n.2367_2379delinsAA | ||
| XR_002957189.1:n.2436_2448delinsAA | ||
| NM_000352.6:c.2295_2307delinsAA MANE Select | NP_000343.2:p.Arg766SerfsTer21 | |
| NM_001287174.2:c.2298_2310delinsAA | NP_001274103.1:p.Arg767SerfsTer21 | |
| NM_001351295.2:c.2361_2373delinsAA | NP_001338224.1:p.Arg788SerfsTer21 | |
| NM_001351296.2:c.2295_2307delinsAA | NP_001338225.1:p.Arg766SerfsTer21 | |
| NM_001351297.2:c.2292_2304delinsAA | NP_001338226.1:p.Arg765SerfsTer21 | |
| NR_147094.2:n.2364_2376delinsAA | ||
| NM_001287174.3:c.2298_2310delinsAA | NP_001274103.1:p.Arg767SerfsTer21 |