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:
rs1953722012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393231_17393232del , CM000673.2:g.17393231_17393232del | GRCh38 |
| NC_000011.9:g.17414778_17414779del , CM000673.1:g.17414778_17414779del | GRCh37 |
| NC_000011.8:g.17371354_17371355del | NCBI36 |
| NG_008867.1:g.88671_88672del | |
| NG_012446.1:g.428_429del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4210-104_4210-103del | ||
| ENST00000526037.6:n.544-104_544-103del | ||
| ENST00000528374.2:c.1200-104_1200-103del | ||
| ENST00000529967.6:n.2948-104_2948-103del | ||
| ENST00000532220.2:n.3842-104_3842-103del | ||
| ENST00000642611.2:n.5942-104_5942-103del | ||
| ENST00000644057.2:n.1185-104_1185-103del | ||
| ENST00000645004.2:n.2108-104_2108-103del | ||
| ENST00000682051.1:n.4771-104_4771-103del | ||
| ENST00000682110.1:n.4824-104_4824-103del | ||
| ENST00000682140.1:c.*395-104_*395-103del | ENSP00000507829.1:n.*395-104_*395-103del | |
| ENST00000682185.1:n.5914-104_5914-103del | ||
| ENST00000682204.1:c.*2747-104_*2747-103del | ENSP00000507094.1:n.*2747-104_*2747-103del | |
| ENST00000682215.1:n.5191-104_5191-103del | ||
| ENST00000682288.1:c.*3040-104_*3040-103del | ENSP00000507506.1:n.*3040-104_*3040-103del | |
| ENST00000682442.1:n.5044-104_5044-103del | ||
| ENST00000682528.1:n.4901-104_4901-103del | ||
| ENST00000682673.1:n.4768-104_4768-103del | ||
| ENST00000682805.1:n.5229-104_5229-103del | ||
| ENST00000682965.1:c.*1031-104_*1031-103del | ENSP00000508229.1:n.*1031-104_*1031-103del | |
| ENST00000683093.1:n.5804-104_5804-103del | ||
| ENST00000683136.1:c.4492-104_4492-103del | ENSP00000507768.1:n.4492-104_4492-103del | |
| ENST00000683153.1:n.4866-104_4866-103del | ||
| ENST00000683365.1:n.4926-104_4926-103del | ||
| ENST00000683377.1:n.4720-104_4720-103del | ||
| ENST00000683456.1:c.*1746-104_*1746-103del | ENSP00000508318.1:n.*1746-104_*1746-103del | |
| ENST00000683522.1:n.4906-104_4906-103del | ||
| ENST00000683562.1:c.*2674-104_*2674-103del | ENSP00000508265.1:n.*2674-104_*2674-103del | |
| ENST00000683693.1:n.6285-104_6285-103del | ||
| ENST00000683725.1:c.*74-104_*74-103del | ENSP00000507496.1:n.*74-104_*74-103del | |
| ENST00000684010.1:n.4819-104_4819-103del | ||
| ENST00000684014.1:n.796-104_796-103del | ||
| ENST00000684157.1:n.5809-104_5809-103del | ||
| ENST00000684253.1:n.4727-104_4727-103del | ||
| ENST00000684288.1:c.*2781-104_*2781-103del | ENSP00000507143.1:n.*2781-104_*2781-103del | |
| ENST00000684313.1:n.4256-104_4256-103del | ||
| ENST00000684332.1:n.4897-104_4897-103del | ||
| ENST00000684371.1:n.4930-104_4930-103del | ||
| ENST00000684404.1:n.5852-104_5852-103del | ||
| ENST00000684442.1:n.5048-104_5048-103del | ||
| ENST00000684555.1:c.*2821-104_*2821-103del | ENSP00000507705.1:n.*2821-104_*2821-103del | |
| ENST00000684571.1:c.4450-104_4450-103del | ENSP00000506935.1:n.4450-104_4450-103del | |
| ENST00000684593.1:c.*4314-104_*4314-103del | ENSP00000507005.1:n.*4314-104_*4314-103del | |
| ENST00000684711.1:c.*3005-104_*3005-103del | ENSP00000506841.1:n.*3005-104_*3005-103del | |
| ENST00000302539.9:c.4612-104_4612-103del | ENSP00000303960.4:n.4612-104_4612-103del | |
| ENST00000389817.8:c.4609-104_4609-103del MANE Select | ENSP00000374467.4:n.4609-104_4609-103del | |
| ENST00000642271.1:c.4606-104_4606-103del | ENSP00000493749.1:n.4606-104_4606-103del | |
| ENST00000642579.1:c.2663-104_2663-103del | ||
| ENST00000642611.1:n.5827-104_5827-103del | ||
| ENST00000642902.1:c.4391-104_4391-103del | ||
| ENST00000643260.1:c.4609-104_4609-103del | ENSP00000494450.1:n.4609-104_4609-103del | |
| ENST00000643562.1:c.*2731-104_*2731-103del | ENSP00000496124.1:n.*2731-104_*2731-103del | |
| ENST00000643925.1:c.3186-104_3186-103del | ||
| ENST00000644057.1:n.768-104_768-103del | ||
| ENST00000644484.1:c.*3995-104_*3995-103del | ENSP00000493558.1:n.*3995-104_*3995-103del | |
| ENST00000644675.1:c.*2781-104_*2781-103del | ENSP00000494567.1:n.*2781-104_*2781-103del | |
| ENST00000644757.1:c.*3203-252_*3203-251del | ENSP00000495085.1:n.*3203-252_*3203-251del | |
| ENST00000644772.1:c.4675-104_4675-103del | ENSP00000494321.1:n.4675-104_4675-103del | |
| ENST00000645004.1:n.2302-104_2302-103del | ||
| ENST00000645076.1:c.3704-104_3704-103del | ||
| ENST00000645417.1:c.1797-104_1797-103del | ||
| ENST00000645744.1:c.*4294-104_*4294-103del | ENSP00000494564.1:n.*4294-104_*4294-103del | |
| ENST00000645760.1:c.5030-104_5030-103del | ||
| ENST00000645884.1:c.*1892-104_*1892-103del | ENSP00000495516.1:n.*1892-104_*1892-103del | |
| ENST00000646003.1:c.*2631-104_*2631-103del | ENSP00000495259.1:n.*2631-104_*2631-103del | |
| ENST00000646207.1:c.*3446-104_*3446-103del | ENSP00000495025.1:n.*3446-104_*3446-103del | |
| ENST00000646276.1:c.*4013-104_*4013-103del | ENSP00000496070.1:n.*4013-104_*4013-103del | |
| ENST00000646592.1:c.3915-104_3915-103del | ||
| ENST00000646902.1:c.4576-104_4576-103del | ENSP00000494101.1:n.4576-104_4576-103del | |
| ENST00000646993.1:c.*3047-104_*3047-103del | ENSP00000493720.1:n.*3047-104_*3047-103del | |
| ENST00000647015.1:c.4360-104_4360-103del | ENSP00000495389.1:n.4360-104_4360-103del | |
| ENST00000647086.1:c.*4195-104_*4195-103del | ENSP00000493677.1:n.*4195-104_*4195-103del | |
| ENST00000647158.1:c.*2896-104_*2896-103del | ENSP00000495744.1:n.*2896-104_*2896-103del | |
| ENST00000302539.8:c.4612-104_4612-103del | ENSP00000303960.4:n.4612-104_4612-103del | |
| ENST00000389817.7:c.4609-104_4609-103del | ENSP00000374467.3:n.4609-104_4609-103del | |
| ENST00000525022.1:n.504-20_504-19del | ||
| ENST00000526037.5:n.369-104_369-103del | ||
| ENST00000526168.5:c.397-104_397-103del | ||
| ENST00000531642.5:c.640-104_640-103del | ||
| NM_000352.4:c.4609-104_4609-103del | NP_000343.2:n.4609-104_4609-103del | |
| NM_001287174.1:c.4612-104_4612-103del | NP_001274103.1:n.4612-104_4612-103del | |
| XM_011520331.1:c.4609-104_4609-103del | XP_011518633.1:n.4609-104_4609-103del | |
| XM_011520333.1:c.3109-104_3109-103del | XP_011518635.1:n.3109-104_3109-103del | |
| XR_930890.1:n.4571-104_4571-103del | ||
| NM_001351295.1:c.4675-104_4675-103del | NP_001338224.1:n.4675-104_4675-103del | |
| NM_001351296.1:c.4609-104_4609-103del | NP_001338225.1:n.4609-104_4609-103del | |
| NM_001351297.1:c.4606-104_4606-103del | NP_001338226.1:n.4606-104_4606-103del | |
| NR_147094.1:n.4904-104_4904-103del | ||
| XM_017018197.2:c.4678-104_4678-103del | XP_016873686.1:n.4678-104_4678-103del | |
| XM_017018199.1:c.4675-104_4675-103del | XP_016873688.1:n.4675-104_4675-103del | |
| XM_017018202.1:c.3175-104_3175-103del | XP_016873691.1:n.3175-104_3175-103del | |
| XM_017018204.1:c.2566-104_2566-103del | XP_016873693.1:n.2566-104_2566-103del | |
| XM_024448668.1:c.2977-104_2977-103del | XP_024304436.1:n.2977-104_2977-103del | |
| XR_001747945.2:n.4646-104_4646-103del | ||
| XR_001747946.2:n.4577-104_4577-103del | ||
| XR_002957189.1:n.6360-104_6360-103del | ||
| NM_000352.6:c.4609-104_4609-103del MANE Select | NP_000343.2:n.4609-104_4609-103del | |
| NM_001287174.2:c.4612-104_4612-103del | NP_001274103.1:n.4612-104_4612-103del | |
| NM_001351295.2:c.4675-104_4675-103del | NP_001338224.1:n.4675-104_4675-103del | |
| NM_001351296.2:c.4609-104_4609-103del | NP_001338225.1:n.4609-104_4609-103del | |
| NM_001351297.2:c.4606-104_4606-103del | NP_001338226.1:n.4606-104_4606-103del | |
| NR_147094.2:n.4904-104_4904-103del | ||
| NM_001287174.3:c.4612-104_4612-103del | NP_001274103.1:n.4612-104_4612-103del |