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_000018.10:g.45739411_45739412insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT , CM000680.2:g.45739411_45739412insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | GRCh38 |
| NC_000018.9:g.43319376_43319377insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT , CM000680.1:g.43319376_43319377insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | GRCh37 |
| NC_000018.8:g.41573374_41573375insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | NCBI36 |
| NG_011775.3:g.20285_20286insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | |
| NG_011775.4:g.57387_57388insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321925.9:c.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT MANE Select | ENSP00000318546.4:n.811+101_811+102insGATGAAAAGATTGCTGATGCAGG... | |
| ENST00000502059.7:c.*164+101_*164+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000442180.2:n.*164+101_*164+102insGATGAAAAGATTGCTGATGCA... | |
| ENST00000586951.6:c.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000465702.2:n.811+101_811+102insGATGAAAAGATTGCTGATGCAGG... | |
| ENST00000588179.6:c.*141+101_*141+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000467898.2:n.*141+101_*141+102insGATGAAAAGATTGCTGATGCA... | |
| ENST00000589322.7:c.415+101_415+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000466273.3:n.415+101_415+102insGATGAAAAGATTGCTGATGCAGG... | |
| ENST00000321925.8:c.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000318546.4:n.811+101_811+102insGATGAAAAGATTGCTGATGCAGG... | |
| ENST00000402943.6:c.496+101_496+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000385320.2:n.496+101_496+102insGATGAAAAGATTGCTGATGCAGG... | |
| ENST00000415427.7:c.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000412309.2:n.979+101_979+102insGATGAAAAGATTGCTGATGCAGG... | |
| ENST00000436407.7:c.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000390637.2:n.979+101_979+102insGATGAAAAGATTGCTGATGCAGG... | |
| ENST00000502059.6:c.487+101_487+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000442180.1:n.487+101_487+102insGATGAAAAGATTGCTGATGCAGG... | |
| ENST00000535474.5:c.415+101_415+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000441998.1:n.415+101_415+102insGATGAAAAGATTGCTGATGCAGG... | |
| ENST00000586142.5:c.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000470476.1:n.811+101_811+102insGATGAAAAGATTGCTGATGCAGG... | |
| ENST00000586854.1:n.244+101_244+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ||
| ENST00000588179.5:c.*141+101_*141+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000467898.2:n.*141+101_*141+102insGATGAAAAGATTGCTGATGCA... | |
| ENST00000589322.6:c.415+101_415+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000466273.2:n.415+101_415+102insGATGAAAAGATTGCTGATGCAGG... | |
| ENST00000589700.5:c.664-117_664-116insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000465044.1:n.664-117_664-116insGATGAAAAGATTGCTGATGCAGG... | |
| ENST00000590377.1:c.386+2763_386+2764insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ||
| ENST00000619403.4:c.664-117_664-116insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ENSP00000479595.1:n.664-117_664-116insGATGAAAAGATTGCTGATGCAGG... | |
| NM_001128588.3:c.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | NP_001122060.3:n.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| NM_001146036.2:c.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | NP_001139508.2:n.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| NM_001146037.1:c.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | NP_001139509.1:n.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| NM_001308278.1:c.496+101_496+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | NP_001295207.1:n.496+101_496+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| NM_001308279.1:c.415+101_415+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | NP_001295208.1:n.415+101_415+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| NM_015865.6:c.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | NP_056949.4:n.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTCAGC... | |
| XM_005258329.1:c.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | XP_005258386.1:n.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| XM_005258333.1:c.415+101_415+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | XP_005258390.1:n.415+101_415+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| XM_006722526.2:c.916+101_916+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | XP_006722589.1:n.916+101_916+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| XM_011526141.1:c.916+101_916+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | XP_011524443.1:n.916+101_916+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| XM_011526142.1:c.916+101_916+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | XP_011524444.1:n.916+101_916+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| XM_011526143.1:c.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | XP_011524445.1:n.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| XM_011526144.1:c.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | XP_011524446.1:n.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| XR_935425.1:n.680-1818_680-1817insAAGACCTTCATAGCACCAATAACCTTGTGTGGCTTCACTTTTGCGTATTCTGCTGAACCTGCATCAGCAATCTTTTCATC | ||
| NM_015865.7:c.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT MANE Select | NP_056949.4:n.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTCAGC... | |
| XM_006722526.3:c.916+101_916+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | XP_006722589.1:n.916+101_916+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| XM_024451238.1:c.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | XP_024307006.1:n.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| XR_001753266.1:n.1177+101_1177+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | ||
| XR_001753561.1:n.529-1818_529-1817insAAGACCTTCATAGCACCAATAACCTTGTGTGGCTTCACTTTTGCGTATTCTGCTGAACCTGCATCAGCAATCTTTTCATC | ||
| XR_935423.2:n.698-1818_698-1817insAAGACCTTCATAGCACCAATAACCTTGTGTGGCTTCACTTTTGCGTATTCTGCTGAACCTGCATCAGCAATCTTTTCATC | ||
| NM_001128588.4:c.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | NP_001122060.3:n.979+101_979+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| NM_001146036.3:c.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | NP_001139508.2:n.811+101_811+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| NM_001308278.2:c.496+101_496+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | NP_001295207.1:n.496+101_496+102insGATGAAAAGATTGCTGATGCAGGTTC... | |
| NM_001308279.2:c.415+101_415+102insGATGAAAAGATTGCTGATGCAGGTTCAGCAGAATACGCAAAAGTGAAGCCACACAAGGTTATTGGTGCTATGAAGGTCTT | NP_001295208.1:n.415+101_415+102insGATGAAAAGATTGCTGATGCAGGTTC... |