SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72347220_72347283delinsTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGG , CM000677.2:g.72347220_72347283delinsTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGG | GRCh38 |
| NC_000015.9:g.72639561_72639624delinsTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGG , CM000677.1:g.72639561_72639624delinsTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGG | GRCh37 |
| NC_000015.8:g.70426615_70426678delinsTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGG | NCBI36 |
| NG_009017.1:g.33897_33960delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | |
| NG_009017.2:g.33897_33960delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1073+765_1073+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000457521.2:n.1073+765_1073+828delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000682061.1:c.*808+403_*808+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000508316.1:n.*808+403_*808+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000682177.1:c.1189+403_1189+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507409.1:n.1189+403_1189+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000682461.1:c.1252+403_1252+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507308.1:n.1252+403_1252+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000682653.1:n.1466+403_1466+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ||
| ENST00000682657.1:c.*483+765_*483+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507753.1:n.*483+765_*483+828delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000682721.1:c.*949+403_*949+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507535.1:n.*949+403_*949+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000682843.1:c.*971+765_*971+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000508173.1:n.*971+765_*971+828delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000683003.1:c.*483+765_*483+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507576.1:n.*483+765_*483+828delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000683133.1:c.1330+403_1330+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000508108.1:n.1330+403_1330+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000683243.1:c.*483+765_*483+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507042.1:n.*483+765_*483+828delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000683463.1:c.1074-573_1074-510delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507986.1:n.1074-573_1074-510delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000683548.1:n.1104+765_1104+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ||
| ENST00000683579.1:c.*1044+403_*1044+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000506867.1:n.*1044+403_*1044+466delinsCCAAAGGCCGCTGTGG... | |
| ENST00000683587.1:n.1177+403_1177+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ||
| ENST00000683681.1:c.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000508110.1:n.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000683735.1:c.*1044+403_*1044+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000508336.1:n.*1044+403_*1044+466delinsCCAAAGGCCGCTGTGG... | |
| ENST00000683742.1:n.1380_1443delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ||
| ENST00000683853.1:c.1074-573_1074-510delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000506834.1:n.1074-573_1074-510delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000683860.1:c.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507179.1:n.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000683884.1:c.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507004.1:n.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000684041.1:c.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000508382.1:n.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000684125.1:c.1073+765_1073+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507320.1:n.1073+765_1073+828delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000684203.1:n.2912-573_2912-510delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ||
| ENST00000684231.1:c.*556+403_*556+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507748.1:n.*556+403_*556+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000684263.1:c.*86+403_*86+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000508369.1:n.*86+403_*86+466delinsCCAAAGGCCGCTGTGGTATG... | |
| ENST00000684305.1:c.1594+403_1594+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000506819.1:n.1594+403_1594+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000684415.1:c.*14-573_*14-510delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507227.1:n.*14-573_*14-510delinsCCAAAGGCCGCTGTGGTATG... | |
| ENST00000684520.1:c.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000506826.1:n.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000684602.1:c.*812+403_*812+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507996.1:n.*812+403_*812+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000684667.1:c.1477+403_1477+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000507003.1:n.1477+403_1477+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000268097.10:c.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA MANE Select | ENSP00000268097.6:n.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000268097.9:c.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000268097.5:n.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000379915.4:c.413-958_413-895delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000478716.1:n.413-958_413-895delinsCCAAAGGCCGCTGTGGTATG... | |
| ENST00000563762.5:c.825+765_825+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000456346.1:n.825+765_825+828delinsCCAAAGGCCGCTGTGGTATG... | |
| ENST00000566304.5:c.1179+403_1179+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000455114.1:n.1179+403_1179+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000566672.5:c.*556+403_*556+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000457037.1:n.*556+403_*556+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000567027.5:c.945+765_945+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ||
| ENST00000567159.5:c.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000456489.1:n.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000567411.5:c.*667+403_*667+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000455545.1:n.*667+403_*667+466delinsCCAAAGGCCGCTGTGGTA... | |
| ENST00000568777.5:n.6550+403_6550+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ||
| ENST00000569410.5:c.1074-573_1074-510delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ENSP00000457125.1:n.1074-573_1074-510delinsCCAAAGGCCGCTGTGGTA... | |
| NM_000520.4:c.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | NP_000511.2:n.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCC... | |
| NM_000520.5:c.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | NP_000511.2:n.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCC... | |
| NM_001318825.1:c.1179+403_1179+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | NP_001305754.1:n.1179+403_1179+466delinsCCAAAGGCCGCTGTGGTATGA... | |
| NR_134869.1:n.1574+765_1574+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ||
| NM_000520.6:c.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA MANE Select | NP_000511.2:n.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCC... | |
| NM_001318825.2:c.1179+403_1179+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | NP_001305754.1:n.1179+403_1179+466delinsCCAAAGGCCGCTGTGGTATGA... | |
| NR_134869.2:n.1115+765_1115+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | ||
| NR_134869.3:n.1115+765_1115+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA |