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_000006.12:g.167024933_167024934insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT , CM000668.2:g.167024933_167024934insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | GRCh38 |
| NC_000006.11:g.167438421_167438422insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT , CM000668.1:g.167438421_167438422insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | GRCh37 |
| NC_000006.10:g.167358411_167358412insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349556.5:c.859+39_859+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000230248.6:n.859+39_859+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000488525.2:c.*51+39_*51+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516042.1:n.*51+39_*51+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000609590.2:n.1791+39_1791+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ||
| ENST00000704900.1:c.496+39_496+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516059.1:n.496+39_496+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000704901.1:c.*506+39_*506+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516060.1:n.*506+39_*506+40insATTTTCTCTAATTAAATACTATG... | |
| ENST00000704959.1:n.1184+39_1184+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ||
| ENST00000704982.1:n.1629+39_1629+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ||
| ENST00000704985.1:n.2025+39_2025+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ||
| ENST00000704986.1:n.2025+39_2025+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ||
| ENST00000705029.1:n.1750+39_1750+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ||
| ENST00000705059.1:n.1574+39_1574+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ||
| ENST00000705168.1:c.172+39_172+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516071.1:n.172+39_172+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705169.1:c.172+39_172+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516072.1:n.172+39_172+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705170.1:c.172+39_172+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516073.1:n.172+39_172+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705171.1:n.964+39_964+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ||
| ENST00000705173.1:c.*228+39_*228+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516075.1:n.*228+39_*228+40insATTTTCTCTAATTAAATACTATG... | |
| ENST00000705175.1:c.1045+39_1045+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516077.1:n.1045+39_1045+40insATTTTCTCTAATTAAATACTATG... | |
| ENST00000705176.1:c.1105+39_1105+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516078.1:n.1105+39_1105+40insATTTTCTCTAATTAAATACTATG... | |
| ENST00000705177.1:c.*503+39_*503+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516079.1:n.*503+39_*503+40insATTTTCTCTAATTAAATACTATG... | |
| ENST00000705178.1:c.442+39_442+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516080.1:n.442+39_442+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705179.1:c.637+39_637+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516081.1:n.637+39_637+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705180.1:c.577+39_577+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516082.1:n.577+39_577+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705235.1:c.919+39_919+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516093.1:n.919+39_919+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705236.1:c.859+39_859+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516094.1:n.859+39_859+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705237.1:c.577+39_577+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516095.1:n.577+39_577+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705238.1:c.778+39_778+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516096.1:n.778+39_778+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705239.1:c.856+39_856+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516097.1:n.856+39_856+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705240.1:c.*528+39_*528+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516098.1:n.*528+39_*528+40insATTTTCTCTAATTAAATACTATG... | |
| ENST00000705241.1:c.*51+39_*51+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516099.1:n.*51+39_*51+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705242.1:c.856+39_856+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516100.1:n.856+39_856+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705249.1:c.859+39_859+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516101.1:n.859+39_859+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705250.1:c.637+39_637+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516102.1:n.637+39_637+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705251.1:c.*506+39_*506+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516103.1:n.*506+39_*506+40insATTTTCTCTAATTAAATACTATG... | |
| ENST00000705252.1:c.*329+39_*329+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516104.1:n.*329+39_*329+40insATTTTCTCTAATTAAATACTATG... | |
| ENST00000705253.1:c.*329+39_*329+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516105.1:n.*329+39_*329+40insATTTTCTCTAATTAAATACTATG... | |
| ENST00000705254.1:c.466+39_466+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516106.1:n.466+39_466+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000705255.1:n.1485+39_1485+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ||
| ENST00000705256.1:c.916+39_916+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000516107.1:n.916+39_916+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000366847.9:c.919+39_919+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT MANE Select | ENSP00000355812.3:n.919+39_919+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000349556.4:c.859+39_859+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000230248.6:n.859+39_859+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000366847.8:c.919+39_919+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000355812.3:n.919+39_919+40insATTTTCTCTAATTAAATACTATGTG... | |
| ENST00000488525.1:n.105+39_105+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ||
| ENST00000496181.1:n.362_363insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ||
| ENST00000622353.4:c.778+39_778+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | ENSP00000479115.1:n.778+39_778+40insATTTTCTCTAATTAAATACTATGTG... | |
| NM_001278690.1:c.778+39_778+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | NP_001265619.1:n.778+39_778+40insATTTTCTCTAATTAAATACTATGTGATT... | |
| NM_007045.3:c.919+39_919+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | NP_008976.1:n.919+39_919+40insATTTTCTCTAATTAAATACTATGTGATTATT... | |
| NM_194429.2:c.859+39_859+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | NP_919410.1:n.859+39_859+40insATTTTCTCTAATTAAATACTATGTGATTATT... | |
| NM_007045.4:c.919+39_919+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT MANE Select | NP_008976.1:n.919+39_919+40insATTTTCTCTAATTAAATACTATGTGATTATT... | |
| NM_194429.3:c.859+39_859+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | NP_919410.1:n.859+39_859+40insATTTTCTCTAATTAAATACTATGTGATTATT... | |
| NM_001278690.2:c.778+39_778+40insATTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATAT | NP_001265619.1:n.778+39_778+40insATTTTCTCTAATTAAATACTATGTGATT... |