SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
dbSNP Id:
rs1953733059
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393441_17393458dup , CM000673.2:g.17393441_17393458dup | GRCh38 |
| NC_000011.9:g.17414988_17415005dup , CM000673.1:g.17414988_17415005dup | GRCh37 |
| NC_000011.8:g.17371564_17371581dup | NCBI36 |
| NG_008867.1:g.88454_88471dup | |
| NG_012446.1:g.211_228dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4209+248_4209+265dup | ||
| ENST00000526037.6:n.543+248_543+265dup | ||
| ENST00000528374.2:c.1199+248_1199+265dup | ||
| ENST00000529967.6:n.2947+248_2947+265dup | ||
| ENST00000532220.2:n.3841+248_3841+265dup | ||
| ENST00000642611.2:n.5941+248_5941+265dup | ||
| ENST00000644057.2:n.1184+248_1184+265dup | ||
| ENST00000645004.2:n.2107+248_2107+265dup | ||
| ENST00000682051.1:n.4770+248_4770+265dup | ||
| ENST00000682110.1:n.4823+248_4823+265dup | ||
| ENST00000682140.1:c.*394+248_*394+265dup | ENSP00000507829.1:n.*394+248_*394+265dup | |
| ENST00000682185.1:n.5913+248_5913+265dup | ||
| ENST00000682204.1:c.*2746+248_*2746+265dup | ENSP00000507094.1:n.*2746+248_*2746+265dup | |
| ENST00000682215.1:n.5190+248_5190+265dup | ||
| ENST00000682288.1:c.*3039+248_*3039+265dup | ENSP00000507506.1:n.*3039+248_*3039+265dup | |
| ENST00000682442.1:n.5043+248_5043+265dup | ||
| ENST00000682528.1:n.4900+248_4900+265dup | ||
| ENST00000682673.1:n.4767+248_4767+265dup | ||
| ENST00000682805.1:n.5228+248_5228+265dup | ||
| ENST00000682965.1:c.*1030+248_*1030+265dup | ENSP00000508229.1:n.*1030+248_*1030+265dup | |
| ENST00000683093.1:n.5803+248_5803+265dup | ||
| ENST00000683136.1:c.4491+248_4491+265dup | ENSP00000507768.1:n.4491+248_4491+265dup | |
| ENST00000683153.1:n.4865+248_4865+265dup | ||
| ENST00000683365.1:n.4925+248_4925+265dup | ||
| ENST00000683377.1:n.4719+248_4719+265dup | ||
| ENST00000683456.1:c.*1745+248_*1745+265dup | ENSP00000508318.1:n.*1745+248_*1745+265dup | |
| ENST00000683522.1:n.4905+248_4905+265dup | ||
| ENST00000683562.1:c.*2673+248_*2673+265dup | ENSP00000508265.1:n.*2673+248_*2673+265dup | |
| ENST00000683693.1:n.6284+248_6284+265dup | ||
| ENST00000683725.1:c.*73+248_*73+265dup | ENSP00000507496.1:n.*73+248_*73+265dup | |
| ENST00000684010.1:n.4818+248_4818+265dup | ||
| ENST00000684014.1:n.795+248_795+265dup | ||
| ENST00000684157.1:n.5808+248_5808+265dup | ||
| ENST00000684253.1:n.4726+248_4726+265dup | ||
| ENST00000684288.1:c.*2780+248_*2780+265dup | ENSP00000507143.1:n.*2780+248_*2780+265dup | |
| ENST00000684313.1:n.4255+248_4255+265dup | ||
| ENST00000684332.1:n.4896+248_4896+265dup | ||
| ENST00000684371.1:n.4929+248_4929+265dup | ||
| ENST00000684404.1:n.5851+248_5851+265dup | ||
| ENST00000684442.1:n.5047+248_5047+265dup | ||
| ENST00000684555.1:c.*2820+248_*2820+265dup | ENSP00000507705.1:n.*2820+248_*2820+265dup | |
| ENST00000684571.1:c.4449+248_4449+265dup | ENSP00000506935.1:n.4449+248_4449+265dup | |
| ENST00000684593.1:c.*4313+248_*4313+265dup | ENSP00000507005.1:n.*4313+248_*4313+265dup | |
| ENST00000684711.1:c.*3004+248_*3004+265dup | ENSP00000506841.1:n.*3004+248_*3004+265dup | |
| ENST00000302539.9:c.4611+248_4611+265dup | ENSP00000303960.4:n.4611+248_4611+265dup | |
| ENST00000389817.8:c.4608+248_4608+265dup MANE Select | ENSP00000374467.4:n.4608+248_4608+265dup | |
| ENST00000642271.1:c.4605+248_4605+265dup | ENSP00000493749.1:n.4605+248_4605+265dup | |
| ENST00000642579.1:c.2662+248_2662+265dup | ||
| ENST00000642611.1:n.5826+248_5826+265dup | ||
| ENST00000642902.1:c.4390+248_4390+265dup | ||
| ENST00000643260.1:c.4608+248_4608+265dup | ENSP00000494450.1:n.4608+248_4608+265dup | |
| ENST00000643562.1:c.*2730+248_*2730+265dup | ENSP00000496124.1:n.*2730+248_*2730+265dup | |
| ENST00000643925.1:c.3186-321_3186-304dup | ||
| ENST00000644057.1:n.767+248_767+265dup | ||
| ENST00000644484.1:c.*3994+248_*3994+265dup | ENSP00000493558.1:n.*3994+248_*3994+265dup | |
| ENST00000644675.1:c.*2780+248_*2780+265dup | ENSP00000494567.1:n.*2780+248_*2780+265dup | |
| ENST00000644757.1:c.*3203-469_*3203-452dup | ENSP00000495085.1:n.*3203-469_*3203-452dup | |
| ENST00000644772.1:c.4674+248_4674+265dup | ENSP00000494321.1:n.4674+248_4674+265dup | |
| ENST00000645004.1:n.2301+248_2301+265dup | ||
| ENST00000645076.1:c.3703+248_3703+265dup | ||
| ENST00000645417.1:c.1796+248_1796+265dup | ||
| ENST00000645744.1:c.*4293+248_*4293+265dup | ENSP00000494564.1:n.*4293+248_*4293+265dup | |
| ENST00000645760.1:c.5029+248_5029+265dup | ||
| ENST00000645884.1:c.*1891+248_*1891+265dup | ENSP00000495516.1:n.*1891+248_*1891+265dup | |
| ENST00000646003.1:c.*2630+248_*2630+265dup | ENSP00000495259.1:n.*2630+248_*2630+265dup | |
| ENST00000646207.1:c.*3445+248_*3445+265dup | ENSP00000495025.1:n.*3445+248_*3445+265dup | |
| ENST00000646276.1:c.*4012+248_*4012+265dup | ENSP00000496070.1:n.*4012+248_*4012+265dup | |
| ENST00000646592.1:c.3914+248_3914+265dup | ||
| ENST00000646902.1:c.4575+248_4575+265dup | ENSP00000494101.1:n.4575+248_4575+265dup | |
| ENST00000646993.1:c.*3046+248_*3046+265dup | ENSP00000493720.1:n.*3046+248_*3046+265dup | |
| ENST00000647015.1:c.4359+248_4359+265dup | ENSP00000495389.1:n.4359+248_4359+265dup | |
| ENST00000647086.1:c.*4194+248_*4194+265dup | ENSP00000493677.1:n.*4194+248_*4194+265dup | |
| ENST00000647158.1:c.*2895+248_*2895+265dup | ENSP00000495744.1:n.*2895+248_*2895+265dup | |
| ENST00000302539.8:c.4611+248_4611+265dup | ENSP00000303960.4:n.4611+248_4611+265dup | |
| ENST00000389817.7:c.4608+248_4608+265dup | ENSP00000374467.3:n.4608+248_4608+265dup | |
| ENST00000525022.1:n.504-237_504-220dup | ||
| ENST00000526037.5:n.368+248_368+265dup | ||
| ENST00000526168.5:c.396+248_396+265dup | ||
| ENST00000531642.5:c.639+248_639+265dup | ||
| NM_000352.4:c.4608+248_4608+265dup | NP_000343.2:n.4608+248_4608+265dup | |
| NM_001287174.1:c.4611+248_4611+265dup | NP_001274103.1:n.4611+248_4611+265dup | |
| XM_011520331.1:c.4608+248_4608+265dup | XP_011518633.1:n.4608+248_4608+265dup | |
| XM_011520333.1:c.3108+248_3108+265dup | XP_011518635.1:n.3108+248_3108+265dup | |
| XR_930890.1:n.4570+248_4570+265dup | ||
| NM_001351295.1:c.4674+248_4674+265dup | NP_001338224.1:n.4674+248_4674+265dup | |
| NM_001351296.1:c.4608+248_4608+265dup | NP_001338225.1:n.4608+248_4608+265dup | |
| NM_001351297.1:c.4605+248_4605+265dup | NP_001338226.1:n.4605+248_4605+265dup | |
| NR_147094.1:n.4903+248_4903+265dup | ||
| XM_017018197.2:c.4677+248_4677+265dup | XP_016873686.1:n.4677+248_4677+265dup | |
| XM_017018199.1:c.4674+248_4674+265dup | XP_016873688.1:n.4674+248_4674+265dup | |
| XM_017018202.1:c.3174+248_3174+265dup | XP_016873691.1:n.3174+248_3174+265dup | |
| XM_017018204.1:c.2565+248_2565+265dup | XP_016873693.1:n.2565+248_2565+265dup | |
| XM_024448668.1:c.2976+248_2976+265dup | XP_024304436.1:n.2976+248_2976+265dup | |
| XR_001747945.2:n.4645+248_4645+265dup | ||
| XR_001747946.2:n.4576+248_4576+265dup | ||
| XR_002957189.1:n.6359+248_6359+265dup | ||
| NM_000352.6:c.4608+248_4608+265dup MANE Select | NP_000343.2:n.4608+248_4608+265dup | |
| NM_001287174.2:c.4611+248_4611+265dup | NP_001274103.1:n.4611+248_4611+265dup | |
| NM_001351295.2:c.4674+248_4674+265dup | NP_001338224.1:n.4674+248_4674+265dup | |
| NM_001351296.2:c.4608+248_4608+265dup | NP_001338225.1:n.4608+248_4608+265dup | |
| NM_001351297.2:c.4605+248_4605+265dup | NP_001338226.1:n.4605+248_4605+265dup | |
| NR_147094.2:n.4903+248_4903+265dup | ||
| NM_001287174.3:c.4611+248_4611+265dup | NP_001274103.1:n.4611+248_4611+265dup |