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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404786_17404787insCACGCCCCTTGGGAGCATCCTGAACAGATTTTCA , CM000673.2:g.17404786_17404787insCACGCCCCTTGGGAGCATCCTGAACAGATTTTCA | GRCh38 |
| NC_000011.9:g.17426333_17426334insCACGCCCCTTGGGAGCATCCTGAACAGATTTTCA , CM000673.1:g.17426333_17426334insCACGCCCCTTGGGAGCATCCTGAACAGATTTTCA | GRCh37 |
| NC_000011.8:g.17382909_17382910insCACGCCCCTTGGGAGCATCCTGAACAGATTTTCA | NCBI36 |
| NG_008867.1:g.77116_77117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2969-118_2969-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000529967.6:n.1739-118_1739-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000532220.2:n.1132-118_1132-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000642611.2:n.3469-118_3469-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000645004.2:n.899-118_899-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000682051.1:n.3416-118_3416-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000682110.1:n.3469-118_3469-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000682140.1:c.3397-118_3397-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000507829.1:n.3397-118_3397-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000682185.1:n.4705-118_4705-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000682204.1:c.*1538-118_*1538-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000507094.1:n.*1538-118_*1538-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000682215.1:n.3466-118_3466-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000682288.1:c.*1831-118_*1831-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000507506.1:n.*1831-118_*1831-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000682442.1:n.3689-118_3689-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000682528.1:n.3546-118_3546-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000682673.1:n.3413-118_3413-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000682805.1:n.3466-118_3466-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000682965.1:c.3396+707_3396+708insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000508229.1:n.3396+707_3396+708insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000683093.1:n.3568-118_3568-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000683136.1:c.3397-118_3397-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000507768.1:n.3397-118_3397-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000683153.1:n.3625-118_3625-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000683365.1:n.3571-118_3571-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000683377.1:n.3469-118_3469-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000683456.1:c.*537-118_*537-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000508318.1:n.*537-118_*537-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000683522.1:n.3469-118_3469-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000683562.1:c.*1569-118_*1569-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000508265.1:n.*1569-118_*1569-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000683693.1:n.3546-118_3546-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000683725.1:c.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000507496.1:n.3400-118_3400-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000684010.1:n.3464-118_3464-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000684157.1:n.3469-118_3469-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000684253.1:n.3372-118_3372-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000684288.1:c.*1572-118_*1572-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000507143.1:n.*1572-118_*1572-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000684313.1:n.2901-118_2901-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000684332.1:n.3542-118_3542-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000684371.1:n.3575-118_3575-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000684404.1:n.3512-118_3512-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000684442.1:n.3469-118_3469-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000684555.1:c.*1612-118_*1612-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000507705.1:n.*1612-118_*1612-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000684571.1:c.3241-118_3241-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000506935.1:n.3241-118_3241-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000684593.1:c.*3105-118_*3105-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000507005.1:n.*3105-118_*3105-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000684711.1:c.*1796-118_*1796-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000506841.1:n.*1796-118_*1796-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000302539.9:c.3403-118_3403-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000303960.4:n.3403-118_3403-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000389817.8:c.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG MANE Select | ENSP00000374467.4:n.3400-118_3400-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000642271.1:c.3397-118_3397-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000493749.1:n.3397-118_3397-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000642579.1:c.1484-118_1484-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000642611.1:n.3354-118_3354-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000642902.1:c.3182-118_3182-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000643260.1:c.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000494450.1:n.3400-118_3400-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000643562.1:c.*1376-118_*1376-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000496124.1:n.*1376-118_*1376-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000643925.1:c.1524-118_1524-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000644447.1:c.1756-118_1756-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000496282.1:n.1756-118_1756-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000644484.1:c.*1655-118_*1655-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000493558.1:n.*1655-118_*1655-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000644675.1:c.*1572-118_*1572-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000494567.1:n.*1572-118_*1572-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000644757.1:c.*1685-118_*1685-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000495085.1:n.*1685-118_*1685-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000644772.1:c.3466-118_3466-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000494321.1:n.3466-118_3466-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000645004.1:n.539-118_539-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000645076.1:c.2599-118_2599-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000645417.1:c.566-118_566-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000645744.1:c.*1664-118_*1664-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000494564.1:n.*1664-118_*1664-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000645760.1:c.3675-118_3675-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000645884.1:c.*537-118_*537-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000495516.1:n.*537-118_*537-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000646003.1:c.*1356-118_*1356-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000495259.1:n.*1356-118_*1356-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000646207.1:c.*1867-118_*1867-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000495025.1:n.*1867-118_*1867-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000646276.1:c.*1673-118_*1673-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000496070.1:n.*1673-118_*1673-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000646592.1:c.2706-118_2706-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000646902.1:c.3397-118_3397-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000494101.1:n.3397-118_3397-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000646993.1:c.*1796-118_*1796-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000493720.1:n.*1796-118_*1796-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000647013.1:c.3406-118_3406-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000496741.1:n.3406-118_3406-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000647015.1:c.3151-118_3151-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000495389.1:n.3151-118_3151-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000647086.1:c.*3130-118_*3130-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000493677.1:n.*3130-118_*3130-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000647158.1:c.*1541-118_*1541-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000495744.1:n.*1541-118_*1541-117insTGAAAATCTGTTCAGGATG... | |
| ENST00000302539.8:c.3403-118_3403-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000303960.4:n.3403-118_3403-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000389817.7:c.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000374467.3:n.3400-118_3400-117insTGAAAATCTGTTCAGGATGCT... | |
| ENST00000524561.1:n.532-118_532-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| ENST00000527905.5:c.*276-118_*276-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ENSP00000431653.1:n.*276-118_*276-117insTGAAAATCTGTTCAGGATGCT... | |
| NM_000352.4:c.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | NP_000343.2:n.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCCAAG... | |
| NM_001287174.1:c.3403-118_3403-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | NP_001274103.1:n.3403-118_3403-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| XM_011520331.1:c.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | XP_011518633.1:n.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| XM_011520332.1:c.3403-118_3403-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | XP_011518634.1:n.3403-118_3403-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| XM_011520333.1:c.1900-118_1900-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | XP_011518635.1:n.1900-118_1900-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| XR_930890.1:n.3466-118_3466-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| XR_930891.1:n.3467-118_3467-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| XR_930892.1:n.3366-118_3366-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| XR_930893.1:n.3363-118_3363-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| NM_001351295.1:c.3466-118_3466-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | NP_001338224.1:n.3466-118_3466-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| NM_001351296.1:c.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | NP_001338225.1:n.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| NM_001351297.1:c.3397-118_3397-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | NP_001338226.1:n.3397-118_3397-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| NR_147094.1:n.3549-118_3549-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| XM_017018197.2:c.3469-118_3469-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | XP_016873686.1:n.3469-118_3469-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| XM_017018199.1:c.3466-118_3466-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | XP_016873688.1:n.3466-118_3466-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| XM_017018201.2:c.3469-118_3469-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | XP_016873690.1:n.3469-118_3469-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| XM_017018202.1:c.1966-118_1966-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | XP_016873691.1:n.1966-118_1966-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| XM_017018204.1:c.1357-118_1357-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | XP_016873693.1:n.1357-118_1357-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| XM_024448668.1:c.1768-118_1768-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | XP_024304436.1:n.1768-118_1768-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| XR_001747945.2:n.3541-118_3541-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| XR_001747946.2:n.3472-118_3472-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| XR_002957189.1:n.3621-118_3621-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| NM_000352.6:c.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG MANE Select | NP_000343.2:n.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCCAAG... | |
| NM_001287174.2:c.3403-118_3403-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | NP_001274103.1:n.3403-118_3403-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| NM_001351295.2:c.3466-118_3466-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | NP_001338224.1:n.3466-118_3466-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| NM_001351296.2:c.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | NP_001338225.1:n.3400-118_3400-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| NM_001351297.2:c.3397-118_3397-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | NP_001338226.1:n.3397-118_3397-117insTGAAAATCTGTTCAGGATGCTCCC... | |
| NR_147094.2:n.3549-118_3549-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | ||
| NM_001287174.3:c.3403-118_3403-117insTGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTG | NP_001274103.1:n.3403-118_3403-117insTGAAAATCTGTTCAGGATGCTCCC... |