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.
Linked Data
dbSNP Id:
rs1780321094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167024960_167024961insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT , CM000668.2:g.167024960_167024961insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | GRCh38 |
| NC_000006.11:g.167438448_167438449insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT , CM000668.1:g.167438448_167438449insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | GRCh37 |
| NC_000006.10:g.167358438_167358439insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349556.5:c.859+66_859+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000230248.6:n.859+66_859+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000488525.2:c.*51+66_*51+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516042.1:n.*51+66_*51+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000609590.2:n.1791+66_1791+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ||
| ENST00000704900.1:c.496+66_496+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516059.1:n.496+66_496+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000704901.1:c.*506+66_*506+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516060.1:n.*506+66_*506+67insGATTGTTGATTTTTTTTCCCAGG... | |
| ENST00000704959.1:n.1184+66_1184+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ||
| ENST00000704982.1:n.1629+66_1629+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ||
| ENST00000704985.1:n.2025+66_2025+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ||
| ENST00000704986.1:n.2025+66_2025+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ||
| ENST00000705029.1:n.1750+66_1750+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ||
| ENST00000705059.1:n.1574+66_1574+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ||
| ENST00000705168.1:c.172+66_172+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516071.1:n.172+66_172+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705169.1:c.172+66_172+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516072.1:n.172+66_172+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705170.1:c.172+66_172+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516073.1:n.172+66_172+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705171.1:n.964+66_964+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ||
| ENST00000705173.1:c.*228+66_*228+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516075.1:n.*228+66_*228+67insGATTGTTGATTTTTTTTCCCAGG... | |
| ENST00000705175.1:c.1045+66_1045+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516077.1:n.1045+66_1045+67insGATTGTTGATTTTTTTTCCCAGG... | |
| ENST00000705176.1:c.1105+66_1105+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516078.1:n.1105+66_1105+67insGATTGTTGATTTTTTTTCCCAGG... | |
| ENST00000705177.1:c.*503+66_*503+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516079.1:n.*503+66_*503+67insGATTGTTGATTTTTTTTCCCAGG... | |
| ENST00000705178.1:c.442+66_442+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516080.1:n.442+66_442+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705179.1:c.637+66_637+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516081.1:n.637+66_637+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705180.1:c.577+66_577+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516082.1:n.577+66_577+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705235.1:c.919+66_919+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516093.1:n.919+66_919+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705236.1:c.859+66_859+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516094.1:n.859+66_859+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705237.1:c.577+66_577+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516095.1:n.577+66_577+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705238.1:c.778+66_778+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516096.1:n.778+66_778+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705239.1:c.856+66_856+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516097.1:n.856+66_856+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705240.1:c.*528+66_*528+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516098.1:n.*528+66_*528+67insGATTGTTGATTTTTTTTCCCAGG... | |
| ENST00000705241.1:c.*51+66_*51+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516099.1:n.*51+66_*51+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705242.1:c.856+66_856+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516100.1:n.856+66_856+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705249.1:c.859+66_859+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516101.1:n.859+66_859+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705250.1:c.637+66_637+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516102.1:n.637+66_637+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705251.1:c.*506+66_*506+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516103.1:n.*506+66_*506+67insGATTGTTGATTTTTTTTCCCAGG... | |
| ENST00000705252.1:c.*329+66_*329+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516104.1:n.*329+66_*329+67insGATTGTTGATTTTTTTTCCCAGG... | |
| ENST00000705253.1:c.*329+66_*329+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516105.1:n.*329+66_*329+67insGATTGTTGATTTTTTTTCCCAGG... | |
| ENST00000705254.1:c.466+66_466+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516106.1:n.466+66_466+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000705255.1:n.1485+66_1485+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ||
| ENST00000705256.1:c.916+66_916+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000516107.1:n.916+66_916+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000366847.9:c.919+66_919+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT MANE Select | ENSP00000355812.3:n.919+66_919+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000349556.4:c.859+66_859+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000230248.6:n.859+66_859+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000366847.8:c.919+66_919+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000355812.3:n.919+66_919+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| ENST00000488525.1:n.105+66_105+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ||
| ENST00000496181.1:n.389_390insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ||
| ENST00000622353.4:c.778+66_778+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | ENSP00000479115.1:n.778+66_778+67insGATTGTTGATTTTTTTTCCCAGGAA... | |
| NM_001278690.1:c.778+66_778+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | NP_001265619.1:n.778+66_778+67insGATTGTTGATTTTTTTTCCCAGGAAAAT... | |
| NM_007045.3:c.919+66_919+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | NP_008976.1:n.919+66_919+67insGATTGTTGATTTTTTTTCCCAGGAAAATCAC... | |
| NM_194429.2:c.859+66_859+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | NP_919410.1:n.859+66_859+67insGATTGTTGATTTTTTTTCCCAGGAAAATCAC... | |
| NM_007045.4:c.919+66_919+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT MANE Select | NP_008976.1:n.919+66_919+67insGATTGTTGATTTTTTTTCCCAGGAAAATCAC... | |
| NM_194429.3:c.859+66_859+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | NP_919410.1:n.859+66_859+67insGATTGTTGATTTTTTTTCCCAGGAAAATCAC... | |
| NM_001278690.2:c.778+66_778+67insGATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAATACTCGGGATATTTTTTCTCTAATTAAATACTATGTGAT | NP_001265619.1:n.778+66_778+67insGATTGTTGATTTTTTTTCCCAGGAAAAT... |