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_000008.11:g.89970450_89970451insGAGAAGATGAGCGTCTTGGAAGCAATTGCACAAGCTGGTGACCTTGGTGTTTATGGAAAGCGTGATAACATTATGTTGATTCGTGAAGATCCAACAGGTCAGAAGCATGTTGTACGTTTGAATCTCAATG , CM000670.2:g.89970450_89970451insGAGAAGATGAGCGTCTTGGAAGCAATTGCACAAGCTGGTGACCTTGGTGTTTATGGAAAGCGTGATAACATTATGTTGATTCGTGAAGATCCAACAGGTCAGAAGCATGTTGTACGTTTGAATCTCAATG | GRCh38 |
| NC_000008.10:g.90982678_90982679insGAGAAGATGAGCGTCTTGGAAGCAATTGCACAAGCTGGTGACCTTGGTGTTTATGGAAAGCGTGATAACATTATGTTGATTCGTGAAGATCCAACAGGTCAGAAGCATGTTGTACGTTTGAATCTCAATG , CM000670.1:g.90982678_90982679insGAGAAGATGAGCGTCTTGGAAGCAATTGCACAAGCTGGTGACCTTGGTGTTTATGGAAAGCGTGATAACATTATGTTGATTCGTGAAGATCCAACAGGTCAGAAGCATGTTGTACGTTTGAATCTCAATG | GRCh37 |
| NC_000008.9:g.91051854_91051855insGAGAAGATGAGCGTCTTGGAAGCAATTGCACAAGCTGGTGACCTTGGTGTTTATGGAAAGCGTGATAACATTATGTTGATTCGTGAAGATCCAACAGGTCAGAAGCATGTTGTACGTTTGAATCTCAATG | NCBI36 |
| NG_008860.1:g.19221_19222insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC , LRG_158:g.19221_19222insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2111_2112insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ||
| ENST00000517337.2:c.563_564insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000429971.2:p.Val189IlefsTer45 | |
| ENST00000523444.2:c.563_564insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000428252.2:p.Val189IlefsTer45 | |
| ENST00000697292.1:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513229.1:p.Val271IlefsTer45 | |
| ENST00000697293.1:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513230.1:p.Val271IlefsTer45 | |
| ENST00000697294.1:c.*420_*421insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513231.1:n.*420_*421insCATTGAGATTCAAACGTACAACATGCTTC... | |
| ENST00000697295.1:c.*118_*119insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513232.1:n.*118_*119insCATTGAGATTCAAACGTACAACATGCTTC... | |
| ENST00000697296.1:c.*477_*478insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513233.1:n.*477_*478insCATTGAGATTCAAACGTACAACATGCTTC... | |
| ENST00000697297.1:n.2594_2595insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ||
| ENST00000697298.1:c.563_564insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513234.1:p.Val189IlefsTer45 | |
| ENST00000697299.1:c.563_564insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513235.1:p.Val189IlefsTer45 | |
| ENST00000697300.1:c.*413_*414insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513236.1:n.*413_*414insCATTGAGATTCAAACGTACAACATGCTTC... | |
| ENST00000697301.1:c.*330_*331insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513237.1:n.*330_*331insCATTGAGATTCAAACGTACAACATGCTTC... | |
| ENST00000697302.1:c.*330_*331insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513238.1:n.*330_*331insCATTGAGATTCAAACGTACAACATGCTTC... | |
| ENST00000697303.1:c.*413_*414insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513239.1:n.*413_*414insCATTGAGATTCAAACGTACAACATGCTTC... | |
| ENST00000697304.1:c.585-5944_585-5943insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513240.1:n.585-5944_585-5943insCATTGAGATTCAAACGTACAA... | |
| ENST00000697306.1:c.480+10283_480+10284insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513241.1:n.480+10283_480+10284insCATTGAGATTCAAACGTAC... | |
| ENST00000697307.1:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513242.1:p.Val271IlefsTer45 | |
| ENST00000697308.1:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513243.1:p.Val271IlefsTer45 | |
| ENST00000697309.1:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513244.1:p.Val271IlefsTer45 | |
| ENST00000697310.1:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513245.1:p.Val271IlefsTer45 | |
| ENST00000697311.1:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513246.1:p.Val271IlefsTer45 | |
| ENST00000697312.1:c.*207_*208insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513247.1:n.*207_*208insCATTGAGATTCAAACGTACAACATGCTTC... | |
| ENST00000697313.1:n.2600_2601insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ||
| ENST00000697314.1:n.2600_2601insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ||
| ENST00000697315.1:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000513248.1:p.Val271IlefsTer45 | |
| ENST00000697316.1:n.930_931insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ||
| ENST00000697317.1:n.919_920insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ||
| ENST00000697318.1:n.921_922insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ||
| ENST00000265433.8:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC MANE Select | ENSP00000265433.4:p.Val271IlefsTer45 | |
| ENST00000265433.7:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000265433.3:p.Val271IlefsTer45 | |
| ENST00000396252.6:c.*682_*683insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000379551.2:n.*682_*683insCATTGAGATTCAAACGTACAACATGCTTC... | |
| ENST00000409330.5:c.563_564insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ENSP00000386924.1:p.Val189IlefsTer45 | |
| NM_001024688.2:c.563_564insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | NP_001019859.1:p.Val189IlefsTer45 | |
| NM_002485.4:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC , LRG_158t1:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | NP_002476.2:p.Val271IlefsTer45 | |
| XM_011517044.1:c.785_786insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | XP_011515346.1:p.Val263IlefsTer45 | |
| XM_011517045.1:c.563_564insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | XP_011515347.1:p.Val189IlefsTer45 | |
| XM_011517046.1:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | XP_011515348.1:p.Val271IlefsTer45 | |
| XR_928335.1:n.946_947insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | ||
| XM_017013460.1:c.-71_-70insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | XP_016868949.1:n.-71_-70insCATTGAGATTCAAACGTACAACATGCTTCTGACC... | |
| XM_017013462.2:c.-71_-70insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | XP_016868951.1:n.-71_-70insCATTGAGATTCAAACGTACAACATGCTTCTGACC... | |
| XM_024447163.1:c.563_564insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | XP_024302931.1:p.Val189IlefsTer45 | |
| XM_024447164.1:c.563_564insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | XP_024302932.1:p.Val189IlefsTer45 | |
| XM_024447165.1:c.-71_-70insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | XP_024302933.1:n.-71_-70insCATTGAGATTCAAACGTACAACATGCTTCTGACC... | |
| NM_002485.5:c.809_810insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC MANE Select | NP_002476.2:p.Val271IlefsTer45 | |
| NM_001024688.3:c.563_564insCATTGAGATTCAAACGTACAACATGCTTCTGACCTGTTGGATCTTCACGAATCAACATAATGTTATCACGCTTTCCATAAACACCAAGGTCACCAGCTTGTGCAATTGCTTCCAAGACGCTCATCTTCTC | NP_001019859.1:p.Val189IlefsTer45 |