UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67228383_67228384insTTTT , CM000663.2:g.67228383_67228384insTTTT | GRCh38 |
| NC_000001.10:g.67694066_67694067insTTTT , CM000663.1:g.67694066_67694067insTTTT | GRCh37 |
| NC_000001.9:g.67466654_67466655insTTTT | NCBI36 |
| NG_011498.1:g.66898_66899insTTTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697148.1:c.832-8330_832-8329insTTTT (IL23R) | ENSP00000513137.1:n.832-8330_832-8329insT... | |
| ENST00000697149.1:c.795-8330_795-8329insTTTT (IL23R) | ENSP00000513138.1:n.795-8330_795-8329insT... | |
| ENST00000697150.1:c.956-8330_956-8329insTTTT (IL23R) | ENSP00000513139.1:n.956-8330_956-8329insT... | |
| ENST00000697151.1:c.956-8330_956-8329insTTTT (IL23R) | ENSP00000513140.1:n.956-8330_956-8329insT... | |
| ENST00000697152.1:c.798+21328_798+21329insTTTT (IL23R) | ENSP00000513141.1:n.798+21328_798+21329in... | |
| ENST00000697153.1:c.794+8653_794+8654insTTTT (IL23R) | ENSP00000513142.1:n.794+8653_794+8654insT... | |
| ENST00000697154.1:c.955+8653_955+8654insTTTT (IL23R) | ENSP00000513143.1:n.955+8653_955+8654insT... | |
| ENST00000697155.1:c.648+8653_648+8654insTTTT (IL23R) | ENSP00000513144.1:n.648+8653_648+8654insT... | |
| ENST00000697156.1:c.956-8330_956-8329insTTTT (IL23R) | ENSP00000513145.1:n.956-8330_956-8329insT... | |
| ENST00000697157.1:c.810-8330_810-8329insTTTT (IL23R) | ENSP00000513146.1:n.810-8330_810-8329insT... | |
| ENST00000697158.1:c.799-8330_799-8329insTTTT (IL23R) | ENSP00000513147.1:n.799-8330_799-8329insT... | |
| ENST00000697159.1:c.649-8330_649-8329insTTTT (IL23R) | ENSP00000513148.1:n.649-8330_649-8329insT... | |
| ENST00000697160.1:c.955+8653_955+8654insTTTT (IL23R) | ENSP00000513149.1:n.955+8653_955+8654insT... | |
| ENST00000697161.1:c.492-8330_492-8329insTTTT (IL23R) | ENSP00000513150.1:n.492-8330_492-8329insT... | |
| ENST00000697162.1:c.885-8330_885-8329insTTTT (IL23R) | ENSP00000513151.1:n.885-8330_885-8329insT... | |
| ENST00000697163.1:c.956-8330_956-8329insTTTT (IL23R) | ENSP00000513152.1:n.956-8330_956-8329insT... | |
| ENST00000697164.1:c.955+8653_955+8654insTTTT (IL23R) | ENSP00000513153.1:n.955+8653_955+8654insT... | |
| ENST00000697165.1:c.653-8330_653-8329insTTTT (IL23R) | ENSP00000513154.1:n.653-8330_653-8329insT... | |
| ENST00000697223.1:c.794+8653_794+8654insTTTT (IL23R) | ENSP00000513190.1:n.794+8653_794+8654insT... | |
| ENST00000697224.1:c.795-8330_795-8329insTTTT (IL23R) | ENSP00000513191.1:n.795-8330_795-8329insT... | |
| ENST00000697225.1:c.648+8653_648+8654insTTTT (IL23R) | ENSP00000513192.1:n.648+8653_648+8654insT... | |
| ENST00000697226.1:c.649-8330_649-8329insTTTT (IL23R) | ENSP00000513193.1:n.649-8330_649-8329insT... | |
| ENST00000697227.1:c.867-8405_867-8404insTTTT (IL23R) | ENSP00000513194.1:n.867-8405_867-8404insT... | |
| ENST00000697228.1:c.648-8330_648-8329insTTTT (IL23R) | ENSP00000513195.1:n.648-8330_648-8329insT... | |
| ENST00000697229.1:c.884+8653_884+8654insTTTT (IL23R) | ENSP00000513196.1:n.884+8653_884+8654insT... | |
| ENST00000697230.1:c.955+8653_955+8654insTTTT (IL23R) | ENSP00000513197.1:n.955+8653_955+8654insT... | |
| ENST00000697231.1:c.950+8653_950+8654insTTTT (IL23R) | ENSP00000513198.1:n.950+8653_950+8654insT... | |
| ENST00000697232.1:c.885-8330_885-8329insTTTT (IL23R) | ENSP00000513199.1:n.885-8330_885-8329insT... | |
| ENST00000347310.10:c.956-8330_956-8329insTTTT (IL23R) MANE Select | ENSP00000321345.5:n.956-8330_956-8329insT... | |
| ENST00000637002.1:c.347-8330_347-8329insTTTT (IL23R) | ENSP00000490340.1:n.347-8330_347-8329insT... | |
| ENST00000347310.9:c.956-8330_956-8329insTTTT (IL23R) | ENSP00000321345.5:n.956-8330_956-8329insT... | |
| ENST00000371007.6:c.-104+3462_-104+3463insAAAA (C1orf141) | ENSP00000360046.1:n.-104+3462_-104+3463in... | |
| ENST00000395227.2:c.-59+8653_-59+8654insTTTT (IL23R) | ENSP00000378652.2:n.-59+8653_-59+8654insT... | |
| ENST00000425614.3:c.191-8330_191-8329insTTTT (IL23R) | ENSP00000387640.2:n.191-8330_191-8329insT... | |
| ENST00000448166.6:c.-104+3462_-104+3463insAAAA (C1orf141) | ENSP00000415519.2:n.-104+3462_-104+3463in... | |
| ENST00000473881.2:c.190+8653_190+8654insTTTT (IL23R) | ENSP00000486667.1:n.190+8653_190+8654insT... | |
| NM_144701.2:c.956-8330_956-8329insTTTT (IL23R) | NP_653302.2:n.956-8330_956-8329insTTTT | |
| XM_005270516.2:c.194-8330_194-8329insTTTT (IL23R) | XP_005270573.1:n.194-8330_194-8329insTTTT... | |
| XM_011540789.1:c.1046-8330_1046-8329insTTTT (IL23R) | XP_011539091.1:n.1046-8330_1046-8329insTT... | |
| XM_011540790.1:c.956-8330_956-8329insTTTT (IL23R) | XP_011539092.1:n.956-8330_956-8329insTTTT... | |
| XM_011540791.1:c.956-8330_956-8329insTTTT (IL23R) | XP_011539093.1:n.956-8330_956-8329insTTTT... | |
| XM_011540790.3:c.956-8330_956-8329insTTTT (IL23R) | XP_011539092.1:n.956-8330_956-8329insTTTT... | |
| XM_011540791.3:c.956-8330_956-8329insTTTT (IL23R) | XP_011539093.1:n.956-8330_956-8329insTTTT... | |
| XR_001736993.1:n.1139-8330_1139-8329insTTTT (IL23R) | ||
| NM_144701.3:c.956-8330_956-8329insTTTT (IL23R) MANE Select | NP_653302.2:n.956-8330_956-8329insTTTT |