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_000015.10:g.72347202_72347203insGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000677.2:g.72347202_72347203insGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000015.9:g.72639543_72639544insGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000677.1:g.72639543_72639544insGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000015.8:g.70426597_70426598insGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_009017.1:g.33977_33978insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | |
| NG_009017.2:g.33977_33978insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1073+845_1073+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000457521.2:n.1073+845_1073+846insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682061.1:c.*808+483_*808+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000508316.1:n.*808+483_*808+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682177.1:c.1189+483_1189+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507409.1:n.1189+483_1189+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682461.1:c.1252+483_1252+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507308.1:n.1252+483_1252+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682653.1:n.1466+483_1466+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ||
| ENST00000682657.1:c.*483+845_*483+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507753.1:n.*483+845_*483+846insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682721.1:c.*949+483_*949+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507535.1:n.*949+483_*949+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682843.1:c.*971+845_*971+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000508173.1:n.*971+845_*971+846insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683003.1:c.*483+845_*483+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507576.1:n.*483+845_*483+846insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683133.1:c.1330+483_1330+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000508108.1:n.1330+483_1330+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683243.1:c.*483+845_*483+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507042.1:n.*483+845_*483+846insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683463.1:c.1074-493_1074-492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507986.1:n.1074-493_1074-492insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683548.1:n.1104+845_1104+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ||
| ENST00000683579.1:c.*1044+483_*1044+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000506867.1:n.*1044+483_*1044+484insAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683587.1:n.1177+483_1177+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ||
| ENST00000683681.1:c.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000508110.1:n.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683735.1:c.*1044+483_*1044+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000508336.1:n.*1044+483_*1044+484insAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683742.1:n.1460_1461insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ||
| ENST00000683853.1:c.1074-493_1074-492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000506834.1:n.1074-493_1074-492insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683860.1:c.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507179.1:n.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683884.1:c.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507004.1:n.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684041.1:c.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000508382.1:n.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684125.1:c.1073+845_1073+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507320.1:n.1073+845_1073+846insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684203.1:n.2912-493_2912-492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ||
| ENST00000684231.1:c.*556+483_*556+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507748.1:n.*556+483_*556+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684263.1:c.*86+483_*86+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000508369.1:n.*86+483_*86+484insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684305.1:c.1594+483_1594+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000506819.1:n.1594+483_1594+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684415.1:c.*14-493_*14-492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507227.1:n.*14-493_*14-492insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684520.1:c.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000506826.1:n.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684602.1:c.*812+483_*812+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507996.1:n.*812+483_*812+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684667.1:c.1477+483_1477+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000507003.1:n.1477+483_1477+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000268097.10:c.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC MANE Select | ENSP00000268097.6:n.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000268097.9:c.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000268097.5:n.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000379915.4:c.413-878_413-877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000478716.1:n.413-878_413-877insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000563762.5:c.825+845_825+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000456346.1:n.825+845_825+846insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000566304.5:c.1179+483_1179+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000455114.1:n.1179+483_1179+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000566672.5:c.*556+483_*556+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000457037.1:n.*556+483_*556+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000567027.5:c.945+845_945+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ||
| ENST00000567159.5:c.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000456489.1:n.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000567411.5:c.*667+483_*667+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000455545.1:n.*667+483_*667+484insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000568777.5:n.6550+483_6550+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ||
| ENST00000569410.5:c.1074-493_1074-492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ENSP00000457125.1:n.1074-493_1074-492insAAAAAAAAAAAAAAAAAAAAA... | |
| NM_000520.4:c.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | NP_000511.2:n.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_000520.5:c.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | NP_000511.2:n.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001318825.1:c.1179+483_1179+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | NP_001305754.1:n.1179+483_1179+484insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NR_134869.1:n.1574+845_1574+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ||
| NM_000520.6:c.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC MANE Select | NP_000511.2:n.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001318825.2:c.1179+483_1179+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | NP_001305754.1:n.1179+483_1179+484insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NR_134869.2:n.1115+845_1115+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | ||
| NR_134869.3:n.1115+845_1115+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC |