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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393228_17393231del , CM000673.2:g.17393228_17393231del | GRCh38 |
| NC_000011.9:g.17414775_17414778del , CM000673.1:g.17414775_17414778del | GRCh37 |
| NC_000011.8:g.17371351_17371354del | NCBI36 |
| NG_008867.1:g.88672_88675del | |
| NG_012446.1:g.429_432del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4210-103_4210-100del | ||
| ENST00000526037.6:n.544-103_544-100del | ||
| ENST00000528374.2:c.1200-103_1200-100del | ||
| ENST00000529967.6:n.2948-103_2948-100del | ||
| ENST00000532220.2:n.3842-103_3842-100del | ||
| ENST00000642611.2:n.5942-103_5942-100del | ||
| ENST00000644057.2:n.1185-103_1185-100del | ||
| ENST00000645004.2:n.2108-103_2108-100del | ||
| ENST00000682051.1:n.4771-103_4771-100del | ||
| ENST00000682110.1:n.4824-103_4824-100del | ||
| ENST00000682140.1:c.*395-103_*395-100del | ENSP00000507829.1:n.*395-103_*395-100del | |
| ENST00000682185.1:n.5914-103_5914-100del | ||
| ENST00000682204.1:c.*2747-103_*2747-100del | ENSP00000507094.1:n.*2747-103_*2747-100del | |
| ENST00000682215.1:n.5191-103_5191-100del | ||
| ENST00000682288.1:c.*3040-103_*3040-100del | ENSP00000507506.1:n.*3040-103_*3040-100del | |
| ENST00000682442.1:n.5044-103_5044-100del | ||
| ENST00000682528.1:n.4901-103_4901-100del | ||
| ENST00000682673.1:n.4768-103_4768-100del | ||
| ENST00000682805.1:n.5229-103_5229-100del | ||
| ENST00000682965.1:c.*1031-103_*1031-100del | ENSP00000508229.1:n.*1031-103_*1031-100del | |
| ENST00000683093.1:n.5804-103_5804-100del | ||
| ENST00000683136.1:c.4492-103_4492-100del | ENSP00000507768.1:n.4492-103_4492-100del | |
| ENST00000683153.1:n.4866-103_4866-100del | ||
| ENST00000683365.1:n.4926-103_4926-100del | ||
| ENST00000683377.1:n.4720-103_4720-100del | ||
| ENST00000683456.1:c.*1746-103_*1746-100del | ENSP00000508318.1:n.*1746-103_*1746-100del | |
| ENST00000683522.1:n.4906-103_4906-100del | ||
| ENST00000683562.1:c.*2674-103_*2674-100del | ENSP00000508265.1:n.*2674-103_*2674-100del | |
| ENST00000683693.1:n.6285-103_6285-100del | ||
| ENST00000683725.1:c.*74-103_*74-100del | ENSP00000507496.1:n.*74-103_*74-100del | |
| ENST00000684010.1:n.4819-103_4819-100del | ||
| ENST00000684014.1:n.796-103_796-100del | ||
| ENST00000684157.1:n.5809-103_5809-100del | ||
| ENST00000684253.1:n.4727-103_4727-100del | ||
| ENST00000684288.1:c.*2781-103_*2781-100del | ENSP00000507143.1:n.*2781-103_*2781-100del | |
| ENST00000684313.1:n.4256-103_4256-100del | ||
| ENST00000684332.1:n.4897-103_4897-100del | ||
| ENST00000684371.1:n.4930-103_4930-100del | ||
| ENST00000684404.1:n.5852-103_5852-100del | ||
| ENST00000684442.1:n.5048-103_5048-100del | ||
| ENST00000684555.1:c.*2821-103_*2821-100del | ENSP00000507705.1:n.*2821-103_*2821-100del | |
| ENST00000684571.1:c.4450-103_4450-100del | ENSP00000506935.1:n.4450-103_4450-100del | |
| ENST00000684593.1:c.*4314-103_*4314-100del | ENSP00000507005.1:n.*4314-103_*4314-100del | |
| ENST00000684711.1:c.*3005-103_*3005-100del | ENSP00000506841.1:n.*3005-103_*3005-100del | |
| ENST00000302539.9:c.4612-103_4612-100del | ENSP00000303960.4:n.4612-103_4612-100del | |
| ENST00000389817.8:c.4609-103_4609-100del MANE Select | ENSP00000374467.4:n.4609-103_4609-100del | |
| ENST00000642271.1:c.4606-103_4606-100del | ENSP00000493749.1:n.4606-103_4606-100del | |
| ENST00000642579.1:c.2663-103_2663-100del | ||
| ENST00000642611.1:n.5827-103_5827-100del | ||
| ENST00000642902.1:c.4391-103_4391-100del | ||
| ENST00000643260.1:c.4609-103_4609-100del | ENSP00000494450.1:n.4609-103_4609-100del | |
| ENST00000643562.1:c.*2731-103_*2731-100del | ENSP00000496124.1:n.*2731-103_*2731-100del | |
| ENST00000643925.1:c.3186-103_3186-100del | ||
| ENST00000644057.1:n.768-103_768-100del | ||
| ENST00000644484.1:c.*3995-103_*3995-100del | ENSP00000493558.1:n.*3995-103_*3995-100del | |
| ENST00000644675.1:c.*2781-103_*2781-100del | ENSP00000494567.1:n.*2781-103_*2781-100del | |
| ENST00000644757.1:c.*3203-251_*3203-248del | ENSP00000495085.1:n.*3203-251_*3203-248del | |
| ENST00000644772.1:c.4675-103_4675-100del | ENSP00000494321.1:n.4675-103_4675-100del | |
| ENST00000645004.1:n.2302-103_2302-100del | ||
| ENST00000645076.1:c.3704-103_3704-100del | ||
| ENST00000645417.1:c.1797-103_1797-100del | ||
| ENST00000645744.1:c.*4294-103_*4294-100del | ENSP00000494564.1:n.*4294-103_*4294-100del | |
| ENST00000645760.1:c.5030-103_5030-100del | ||
| ENST00000645884.1:c.*1892-103_*1892-100del | ENSP00000495516.1:n.*1892-103_*1892-100del | |
| ENST00000646003.1:c.*2631-103_*2631-100del | ENSP00000495259.1:n.*2631-103_*2631-100del | |
| ENST00000646207.1:c.*3446-103_*3446-100del | ENSP00000495025.1:n.*3446-103_*3446-100del | |
| ENST00000646276.1:c.*4013-103_*4013-100del | ENSP00000496070.1:n.*4013-103_*4013-100del | |
| ENST00000646592.1:c.3915-103_3915-100del | ||
| ENST00000646902.1:c.4576-103_4576-100del | ENSP00000494101.1:n.4576-103_4576-100del | |
| ENST00000646993.1:c.*3047-103_*3047-100del | ENSP00000493720.1:n.*3047-103_*3047-100del | |
| ENST00000647015.1:c.4360-103_4360-100del | ENSP00000495389.1:n.4360-103_4360-100del | |
| ENST00000647086.1:c.*4195-103_*4195-100del | ENSP00000493677.1:n.*4195-103_*4195-100del | |
| ENST00000647158.1:c.*2896-103_*2896-100del | ENSP00000495744.1:n.*2896-103_*2896-100del | |
| ENST00000302539.8:c.4612-103_4612-100del | ENSP00000303960.4:n.4612-103_4612-100del | |
| ENST00000389817.7:c.4609-103_4609-100del | ENSP00000374467.3:n.4609-103_4609-100del | |
| ENST00000525022.1:n.504-19_504-16del | ||
| ENST00000526037.5:n.369-103_369-100del | ||
| ENST00000526168.5:c.397-103_397-100del | ||
| ENST00000531642.5:c.640-103_640-100del | ||
| NM_000352.4:c.4609-103_4609-100del | NP_000343.2:n.4609-103_4609-100del | |
| NM_001287174.1:c.4612-103_4612-100del | NP_001274103.1:n.4612-103_4612-100del | |
| XM_011520331.1:c.4609-103_4609-100del | XP_011518633.1:n.4609-103_4609-100del | |
| XM_011520333.1:c.3109-103_3109-100del | XP_011518635.1:n.3109-103_3109-100del | |
| XR_930890.1:n.4571-103_4571-100del | ||
| NM_001351295.1:c.4675-103_4675-100del | NP_001338224.1:n.4675-103_4675-100del | |
| NM_001351296.1:c.4609-103_4609-100del | NP_001338225.1:n.4609-103_4609-100del | |
| NM_001351297.1:c.4606-103_4606-100del | NP_001338226.1:n.4606-103_4606-100del | |
| NR_147094.1:n.4904-103_4904-100del | ||
| XM_017018197.2:c.4678-103_4678-100del | XP_016873686.1:n.4678-103_4678-100del | |
| XM_017018199.1:c.4675-103_4675-100del | XP_016873688.1:n.4675-103_4675-100del | |
| XM_017018202.1:c.3175-103_3175-100del | XP_016873691.1:n.3175-103_3175-100del | |
| XM_017018204.1:c.2566-103_2566-100del | XP_016873693.1:n.2566-103_2566-100del | |
| XM_024448668.1:c.2977-103_2977-100del | XP_024304436.1:n.2977-103_2977-100del | |
| XR_001747945.2:n.4646-103_4646-100del | ||
| XR_001747946.2:n.4577-103_4577-100del | ||
| XR_002957189.1:n.6360-103_6360-100del | ||
| NM_000352.6:c.4609-103_4609-100del MANE Select | NP_000343.2:n.4609-103_4609-100del | |
| NM_001287174.2:c.4612-103_4612-100del | NP_001274103.1:n.4612-103_4612-100del | |
| NM_001351295.2:c.4675-103_4675-100del | NP_001338224.1:n.4675-103_4675-100del | |
| NM_001351296.2:c.4609-103_4609-100del | NP_001338225.1:n.4609-103_4609-100del | |
| NM_001351297.2:c.4606-103_4606-100del | NP_001338226.1:n.4606-103_4606-100del | |
| NR_147094.2:n.4904-103_4904-100del | ||
| NM_001287174.3:c.4612-103_4612-100del | NP_001274103.1:n.4612-103_4612-100del |