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:
rs1953721270
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393227_17393232del , CM000673.2:g.17393227_17393232del | GRCh38 |
| NC_000011.9:g.17414774_17414779del , CM000673.1:g.17414774_17414779del | GRCh37 |
| NC_000011.8:g.17371350_17371355del | NCBI36 |
| NG_008867.1:g.88675_88680del | |
| NG_012446.1:g.432_437del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4210-100_4210-95del | ||
| ENST00000526037.6:n.544-100_544-95del | ||
| ENST00000528374.2:c.1200-100_1200-95del | ||
| ENST00000529967.6:n.2948-100_2948-95del | ||
| ENST00000532220.2:n.3842-100_3842-95del | ||
| ENST00000642611.2:n.5942-100_5942-95del | ||
| ENST00000644057.2:n.1185-100_1185-95del | ||
| ENST00000645004.2:n.2108-100_2108-95del | ||
| ENST00000682051.1:n.4771-100_4771-95del | ||
| ENST00000682110.1:n.4824-100_4824-95del | ||
| ENST00000682140.1:c.*395-100_*395-95del | ENSP00000507829.1:n.*395-100_*395-95del | |
| ENST00000682185.1:n.5914-100_5914-95del | ||
| ENST00000682204.1:c.*2747-100_*2747-95del | ENSP00000507094.1:n.*2747-100_*2747-95del | |
| ENST00000682215.1:n.5191-100_5191-95del | ||
| ENST00000682288.1:c.*3040-100_*3040-95del | ENSP00000507506.1:n.*3040-100_*3040-95del | |
| ENST00000682442.1:n.5044-100_5044-95del | ||
| ENST00000682528.1:n.4901-100_4901-95del | ||
| ENST00000682673.1:n.4768-100_4768-95del | ||
| ENST00000682805.1:n.5229-100_5229-95del | ||
| ENST00000682965.1:c.*1031-100_*1031-95del | ENSP00000508229.1:n.*1031-100_*1031-95del | |
| ENST00000683093.1:n.5804-100_5804-95del | ||
| ENST00000683136.1:c.4492-100_4492-95del | ENSP00000507768.1:n.4492-100_4492-95del | |
| ENST00000683153.1:n.4866-100_4866-95del | ||
| ENST00000683365.1:n.4926-100_4926-95del | ||
| ENST00000683377.1:n.4720-100_4720-95del | ||
| ENST00000683456.1:c.*1746-100_*1746-95del | ENSP00000508318.1:n.*1746-100_*1746-95del | |
| ENST00000683522.1:n.4906-100_4906-95del | ||
| ENST00000683562.1:c.*2674-100_*2674-95del | ENSP00000508265.1:n.*2674-100_*2674-95del | |
| ENST00000683693.1:n.6285-100_6285-95del | ||
| ENST00000683725.1:c.*74-100_*74-95del | ENSP00000507496.1:n.*74-100_*74-95del | |
| ENST00000684010.1:n.4819-100_4819-95del | ||
| ENST00000684014.1:n.796-100_796-95del | ||
| ENST00000684157.1:n.5809-100_5809-95del | ||
| ENST00000684253.1:n.4727-100_4727-95del | ||
| ENST00000684288.1:c.*2781-100_*2781-95del | ENSP00000507143.1:n.*2781-100_*2781-95del | |
| ENST00000684313.1:n.4256-100_4256-95del | ||
| ENST00000684332.1:n.4897-100_4897-95del | ||
| ENST00000684371.1:n.4930-100_4930-95del | ||
| ENST00000684404.1:n.5852-100_5852-95del | ||
| ENST00000684442.1:n.5048-100_5048-95del | ||
| ENST00000684555.1:c.*2821-100_*2821-95del | ENSP00000507705.1:n.*2821-100_*2821-95del | |
| ENST00000684571.1:c.4450-100_4450-95del | ENSP00000506935.1:n.4450-100_4450-95del | |
| ENST00000684593.1:c.*4314-100_*4314-95del | ENSP00000507005.1:n.*4314-100_*4314-95del | |
| ENST00000684711.1:c.*3005-100_*3005-95del | ENSP00000506841.1:n.*3005-100_*3005-95del | |
| ENST00000302539.9:c.4612-100_4612-95del | ENSP00000303960.4:n.4612-100_4612-95del | |
| ENST00000389817.8:c.4609-100_4609-95del MANE Select | ENSP00000374467.4:n.4609-100_4609-95del | |
| ENST00000642271.1:c.4606-100_4606-95del | ENSP00000493749.1:n.4606-100_4606-95del | |
| ENST00000642579.1:c.2663-100_2663-95del | ||
| ENST00000642611.1:n.5827-100_5827-95del | ||
| ENST00000642902.1:c.4391-100_4391-95del | ||
| ENST00000643260.1:c.4609-100_4609-95del | ENSP00000494450.1:n.4609-100_4609-95del | |
| ENST00000643562.1:c.*2731-100_*2731-95del | ENSP00000496124.1:n.*2731-100_*2731-95del | |
| ENST00000643925.1:c.3186-100_3186-95del | ||
| ENST00000644057.1:n.768-100_768-95del | ||
| ENST00000644484.1:c.*3995-100_*3995-95del | ENSP00000493558.1:n.*3995-100_*3995-95del | |
| ENST00000644675.1:c.*2781-100_*2781-95del | ENSP00000494567.1:n.*2781-100_*2781-95del | |
| ENST00000644757.1:c.*3203-248_*3203-243del | ENSP00000495085.1:n.*3203-248_*3203-243del | |
| ENST00000644772.1:c.4675-100_4675-95del | ENSP00000494321.1:n.4675-100_4675-95del | |
| ENST00000645004.1:n.2302-100_2302-95del | ||
| ENST00000645076.1:c.3704-100_3704-95del | ||
| ENST00000645417.1:c.1797-100_1797-95del | ||
| ENST00000645744.1:c.*4294-100_*4294-95del | ENSP00000494564.1:n.*4294-100_*4294-95del | |
| ENST00000645760.1:c.5030-100_5030-95del | ||
| ENST00000645884.1:c.*1892-100_*1892-95del | ENSP00000495516.1:n.*1892-100_*1892-95del | |
| ENST00000646003.1:c.*2631-100_*2631-95del | ENSP00000495259.1:n.*2631-100_*2631-95del | |
| ENST00000646207.1:c.*3446-100_*3446-95del | ENSP00000495025.1:n.*3446-100_*3446-95del | |
| ENST00000646276.1:c.*4013-100_*4013-95del | ENSP00000496070.1:n.*4013-100_*4013-95del | |
| ENST00000646592.1:c.3915-100_3915-95del | ||
| ENST00000646902.1:c.4576-100_4576-95del | ENSP00000494101.1:n.4576-100_4576-95del | |
| ENST00000646993.1:c.*3047-100_*3047-95del | ENSP00000493720.1:n.*3047-100_*3047-95del | |
| ENST00000647015.1:c.4360-100_4360-95del | ENSP00000495389.1:n.4360-100_4360-95del | |
| ENST00000647086.1:c.*4195-100_*4195-95del | ENSP00000493677.1:n.*4195-100_*4195-95del | |
| ENST00000647158.1:c.*2896-100_*2896-95del | ENSP00000495744.1:n.*2896-100_*2896-95del | |
| ENST00000302539.8:c.4612-100_4612-95del | ENSP00000303960.4:n.4612-100_4612-95del | |
| ENST00000389817.7:c.4609-100_4609-95del | ENSP00000374467.3:n.4609-100_4609-95del | |
| ENST00000525022.1:n.504-16_504-11del | ||
| ENST00000526037.5:n.369-100_369-95del | ||
| ENST00000526168.5:c.397-100_397-95del | ||
| ENST00000531642.5:c.640-100_640-95del | ||
| NM_000352.4:c.4609-100_4609-95del | NP_000343.2:n.4609-100_4609-95del | |
| NM_001287174.1:c.4612-100_4612-95del | NP_001274103.1:n.4612-100_4612-95del | |
| XM_011520331.1:c.4609-100_4609-95del | XP_011518633.1:n.4609-100_4609-95del | |
| XM_011520333.1:c.3109-100_3109-95del | XP_011518635.1:n.3109-100_3109-95del | |
| XR_930890.1:n.4571-100_4571-95del | ||
| NM_001351295.1:c.4675-100_4675-95del | NP_001338224.1:n.4675-100_4675-95del | |
| NM_001351296.1:c.4609-100_4609-95del | NP_001338225.1:n.4609-100_4609-95del | |
| NM_001351297.1:c.4606-100_4606-95del | NP_001338226.1:n.4606-100_4606-95del | |
| NR_147094.1:n.4904-100_4904-95del | ||
| XM_017018197.2:c.4678-100_4678-95del | XP_016873686.1:n.4678-100_4678-95del | |
| XM_017018199.1:c.4675-100_4675-95del | XP_016873688.1:n.4675-100_4675-95del | |
| XM_017018202.1:c.3175-100_3175-95del | XP_016873691.1:n.3175-100_3175-95del | |
| XM_017018204.1:c.2566-100_2566-95del | XP_016873693.1:n.2566-100_2566-95del | |
| XM_024448668.1:c.2977-100_2977-95del | XP_024304436.1:n.2977-100_2977-95del | |
| XR_001747945.2:n.4646-100_4646-95del | ||
| XR_001747946.2:n.4577-100_4577-95del | ||
| XR_002957189.1:n.6360-100_6360-95del | ||
| NM_000352.6:c.4609-100_4609-95del MANE Select | NP_000343.2:n.4609-100_4609-95del | |
| NM_001287174.2:c.4612-100_4612-95del | NP_001274103.1:n.4612-100_4612-95del | |
| NM_001351295.2:c.4675-100_4675-95del | NP_001338224.1:n.4675-100_4675-95del | |
| NM_001351296.2:c.4609-100_4609-95del | NP_001338225.1:n.4609-100_4609-95del | |
| NM_001351297.2:c.4606-100_4606-95del | NP_001338226.1:n.4606-100_4606-95del | |
| NR_147094.2:n.4904-100_4904-95del | ||
| NM_001287174.3:c.4612-100_4612-95del | NP_001274103.1:n.4612-100_4612-95del |