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_000001.11:g.45329351_45329400delinsAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCC , CM000663.2:g.45329351_45329400delinsAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCC | GRCh38 |
| NC_000001.10:g.45795023_45795072delinsAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCC , CM000663.1:g.45795023_45795072delinsAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCC | GRCh37 |
| NC_000001.9:g.45567610_45567659delinsAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCC | NCBI36 |
| NG_008189.1:g.16071_16120delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT , LRG_220:g.16071_16120delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.1088_1137delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000410263.2:p.Arg363= | |
| ENST00000435155.2:c.1505_1554delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000403655.2:p.Arg502= | |
| ENST00000467459.6:c.*334_*383delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000435889.2:n.*334_*383delinsGGAAAAAGCCCCGCATGGGCCAGCAA... | |
| ENST00000483127.2:c.1490_1539delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000436469.2:p.Arg497= | |
| ENST00000485271.6:c.*215_*264delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000431264.2:n.*215_*264delinsGGAAAAAGCCCCGCATGGGCCAGCAA... | |
| ENST00000529892.6:c.1325_1374delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000432528.2:p.Arg442= | |
| ENST00000533178.6:c.*801_*850delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000436430.2:n.*801_*850delinsGGAAAAAGCCCCGCATGGGCCAGCAA... | |
| ENST00000672314.2:c.1472_1521delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000500828.2:p.Arg491= | |
| ENST00000710952.2:c.1556_1605delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT MANE Plus Clinical | ENSP00000518552.2:p.Arg519= | |
| ENST00000672818.3:c.1547_1596delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000500891.1:p.Arg516= | |
| ENST00000456914.7:c.1472_1521delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT MANE Select | ENSP00000407590.2:p.Arg491= | |
| ENST00000671898.1:c.*215_*264delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000499896.1:n.*215_*264delinsGGAAAAAGCCCCGCATGGGCCAGCAA... | |
| ENST00000672011.1:c.*801_*850delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000500418.1:n.*801_*850delinsGGAAAAAGCCCCGCATGGGCCAGCAA... | |
| ENST00000672818.2:c.1547_1596delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000500891.1:p.Arg516= | |
| ENST00000354383.10:c.1475_1524delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000346354.6:p.Arg492= | |
| ENST00000355498.6:c.1472_1521delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000347685.2:p.Arg491= | |
| ENST00000372098.7:c.1547_1596delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000361170.3:p.Arg516= | |
| ENST00000372104.5:c.1472_1521delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000361176.1:p.Arg491= | |
| ENST00000372110.7:c.1517_1566delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000361182.3:p.Arg506= | |
| ENST00000372115.7:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000361187.3:p.Arg505= | |
| ENST00000448481.5:c.1505_1554delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000409718.1:p.Arg502= | |
| ENST00000450313.5:c.1556_1605delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000408176.1:p.Arg519= | |
| ENST00000456914.6:c.1472_1521delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000407590.2:p.Arg491= | |
| ENST00000467459.5:c.889_938delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000435889.1:n.889_938delinsGGAAAAAGCCCCGCATGGGCCAGCAAGT... | |
| ENST00000475516.5:c.*1285_*1334delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000433843.1:n.*1285_*1334delinsGGAAAAAGCCCCGCATGGGCCAGC... | |
| ENST00000481571.5:c.*1285_*1334delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000436597.1:n.*1285_*1334delinsGGAAAAAGCCCCGCATGGGCCAGC... | |
| ENST00000482094.5:n.793_842delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ||
| ENST00000485271.5:c.349_398delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ||
| ENST00000488731.6:c.557_606delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000432330.1:p.Arg186= | |
| ENST00000528013.6:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000433130.2:p.Arg505= | |
| ENST00000529892.5:c.547_596delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ||
| ENST00000529984.5:c.557_606delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000437093.1:p.Arg186= | |
| ENST00000531105.5:c.153_*13delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000431292.1:n.[c.153_*13delinsGGAAAAAGCCCCGCATGGGCCAGCA... | |
| ENST00000533178.5:c.1101_1150delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ENSP00000436430.1:n.1101_1150delinsGGAAAAAGCCCCGCATGGGCCAGCAA... | |
| NM_001048171.1:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001041636.1:p.Arg505= | |
| NM_001048172.1:c.1475_1524delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001041637.1:p.Arg492= | |
| NM_001048173.1:c.1472_1521delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001041638.1:p.Arg491= | |
| NM_001048174.1:c.1472_1521delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001041639.1:p.Arg491= | |
| NM_001128425.1:c.1556_1605delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT , LRG_220t1:c.1556_1605delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001121897.1:p.Arg519= | |
| NM_001293190.1:c.1517_1566delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001280119.1:p.Arg506= | |
| NM_001293191.1:c.1505_1554delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001280120.1:p.Arg502= | |
| NM_001293192.1:c.1196_1245delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001280121.1:p.Arg399= | |
| NM_001293195.1:c.1472_1521delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001280124.1:p.Arg491= | |
| NM_001293196.1:c.1196_1245delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001280125.1:p.Arg399= | |
| NM_012222.2:c.1547_1596delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_036354.1:p.Arg516= | |
| XM_011541497.1:c.1532_1581delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539799.1:p.Arg511= | |
| XM_011541498.1:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539800.1:p.Arg505= | |
| XM_011541499.1:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539801.1:p.Arg505= | |
| XM_011541500.1:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539802.1:p.Arg505= | |
| XM_011541501.1:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539803.1:p.Arg505= | |
| XM_011541502.1:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539804.1:p.Arg505= | |
| XM_011541503.1:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539805.1:p.Arg505= | |
| XM_011541504.1:c.1505_1554delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539806.1:p.Arg502= | |
| XM_011541505.1:c.1094_1143delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539807.1:p.Arg365= | |
| XM_011541506.1:c.1094_1143delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539808.1:p.Arg365= | |
| XM_011541507.1:c.1085_1134delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539809.1:p.Arg362= | |
| XM_011541508.1:c.1100_1149delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539810.1:p.Arg367= | |
| XR_946658.1:n.1783_1832delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ||
| NM_001350650.1:c.1127_1176delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001337579.1:p.Arg376= | |
| NM_001350651.1:c.1127_1176delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001337580.1:p.Arg376= | |
| NR_146882.1:n.1910_1959delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ||
| NR_146883.1:n.1724_1773delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ||
| XM_011541497.3:c.1532_1581delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539799.1:p.Arg511= | |
| XM_011541500.3:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539802.1:p.Arg505= | |
| XM_011541501.2:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539803.1:p.Arg505= | |
| XM_011541502.2:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539804.1:p.Arg505= | |
| XM_011541503.2:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539805.1:p.Arg505= | |
| XM_011541504.2:c.1505_1554delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539806.1:p.Arg502= | |
| XM_011541505.2:c.1094_1143delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539807.1:p.Arg365= | |
| XM_011541506.2:c.1094_1143delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_011539808.1:p.Arg365= | |
| XM_017001331.1:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_016856820.1:p.Arg505= | |
| XM_017001332.1:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_016856821.1:p.Arg505= | |
| XM_017001333.1:c.1514_1563delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_016856822.1:p.Arg505= | |
| XM_017001334.1:c.1475_1524delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_016856823.1:p.Arg492= | |
| XM_017001335.1:c.1196_1245delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_016856824.1:p.Arg399= | |
| XM_017001336.1:c.1127_1176delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_016856825.1:p.Arg376= | |
| XM_017001337.1:c.1127_1176delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_016856826.1:p.Arg376= | |
| XM_024447244.1:c.1127_1176delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_024303012.1:p.Arg376= | |
| XM_024447245.1:c.1127_1176delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_024303013.1:p.Arg376= | |
| XM_024447248.1:c.1085_1134delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_024303016.1:p.Arg362= | |
| XM_024447249.1:c.956_1005delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_024303017.1:p.Arg319= | |
| XM_024447250.1:c.956_1005delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_024303018.1:p.Arg319= | |
| XM_024447251.1:c.956_1005delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | XP_024303019.1:p.Arg319= | |
| XR_001737190.1:n.1697_1746delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ||
| XR_001737192.1:n.1509_1558delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ||
| XR_002956643.1:n.1689_1738delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ||
| XR_002956644.1:n.2224_2273delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ||
| XR_946658.2:n.1797_1846delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ||
| NM_001048171.2:c.1472_1521delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001041636.2:p.Arg491= | |
| NM_001128425.2:c.1556_1605delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT MANE Plus Clinical | NP_001121897.1:p.Arg519= | |
| NM_001048172.2:c.1475_1524delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001041637.1:p.Arg492= | |
| NM_001048173.2:c.1472_1521delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001041638.1:p.Arg491= | |
| NM_001048174.2:c.1472_1521delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT MANE Select | NP_001041639.1:p.Arg491= | |
| NM_001293190.2:c.1517_1566delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001280119.1:p.Arg506= | |
| NM_001293191.2:c.1505_1554delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001280120.1:p.Arg502= | |
| NM_001293192.2:c.1196_1245delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001280121.1:p.Arg399= | |
| NM_001293195.2:c.1472_1521delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001280124.1:p.Arg491= | |
| NM_001293196.2:c.1196_1245delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001280125.1:p.Arg399= | |
| NM_001350650.2:c.1127_1176delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001337579.1:p.Arg376= | |
| NM_001350651.2:c.1127_1176delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_001337580.1:p.Arg376= | |
| NM_012222.3:c.1547_1596delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | NP_036354.1:p.Arg516= | |
| NR_146882.2:n.1880_1929delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT | ||
| NR_146883.2:n.1729_1778delinsGGAAAAAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCT |