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.45330542_45330544delinsGAT , CM000663.2:g.45330542_45330544delinsGAT | GRCh38 |
| NC_000001.10:g.45796214_45796216delinsGAT , CM000663.1:g.45796214_45796216delinsGAT | GRCh37 |
| NC_000001.9:g.45568801_45568803delinsGAT | NCBI36 |
| NG_008189.1:g.14927_14929delinsATC , LRG_220:g.14927_14929delinsATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.1022_1024delinsATC | ENSP00000410263.2:p.Tyr341= | |
| ENST00000435155.2:c.1439_1441delinsATC | ENSP00000403655.2:p.Tyr480= | |
| ENST00000467459.6:c.*268_*270delinsATC | ENSP00000435889.2:n.*268_*270delinsATC | |
| ENST00000483127.2:c.1424_1426delinsATC | ENSP00000436469.2:p.Tyr475= | |
| ENST00000485271.6:c.1406_1408delinsATC | ENSP00000431264.2:p.Tyr469= | |
| ENST00000529892.6:c.1259_1261delinsATC | ENSP00000432528.2:p.Tyr420= | |
| ENST00000533178.6:c.*735_*737delinsATC | ENSP00000436430.2:n.*735_*737delinsATC | |
| ENST00000672314.2:c.1406_1408delinsATC | ENSP00000500828.2:p.Tyr469= | |
| ENST00000710952.2:c.1490_1492delinsATC MANE Plus Clinical | ENSP00000518552.2:p.Tyr497= | |
| ENST00000672818.3:c.1481_1483delinsATC | ENSP00000500891.1:p.Tyr494= | |
| ENST00000456914.7:c.1406_1408delinsATC MANE Select | ENSP00000407590.2:p.Tyr469= | |
| ENST00000671898.1:c.1994_1996delinsATC | ENSP00000499896.1:p.Tyr665= | |
| ENST00000672011.1:c.*735_*737delinsATC | ENSP00000500418.1:n.*735_*737delinsATC | |
| ENST00000672818.2:c.1481_1483delinsATC | ENSP00000500891.1:p.Tyr494= | |
| ENST00000673134.1:c.*1103_*1105delinsATC | ENSP00000500526.1:n.*1103_*1105delinsATC | |
| ENST00000354383.10:c.1409_1411delinsATC | ENSP00000346354.6:p.Tyr470= | |
| ENST00000355498.6:c.1406_1408delinsATC | ENSP00000347685.2:p.Tyr469= | |
| ENST00000372098.7:c.1481_1483delinsATC | ENSP00000361170.3:p.Tyr494= | |
| ENST00000372104.5:c.1406_1408delinsATC | ENSP00000361176.1:p.Tyr469= | |
| ENST00000372110.7:c.1451_1453delinsATC | ENSP00000361182.3:p.Tyr484= | |
| ENST00000372115.7:c.1448_1450delinsATC | ENSP00000361187.3:p.Tyr483= | |
| ENST00000448481.5:c.1439_1441delinsATC | ENSP00000409718.1:p.Tyr480= | |
| ENST00000450313.5:c.1490_1492delinsATC | ENSP00000408176.1:p.Tyr497= | |
| ENST00000456914.6:c.1406_1408delinsATC | ENSP00000407590.2:p.Tyr469= | |
| ENST00000467459.5:c.823_825delinsATC | ENSP00000435889.1:n.823_825delinsATC | |
| ENST00000475516.5:c.*1219_*1221delinsATC | ENSP00000433843.1:n.*1219_*1221delinsATC | |
| ENST00000481571.5:c.*1219_*1221delinsATC | ENSP00000436597.1:n.*1219_*1221delinsATC | |
| ENST00000482094.5:n.727_729delinsATC | ||
| ENST00000485271.5:c.103_105delinsATC | ||
| ENST00000488731.6:c.491_493delinsATC | ENSP00000432330.1:p.Tyr164= | |
| ENST00000528013.6:c.1448_1450delinsATC | ENSP00000433130.2:p.Tyr483= | |
| ENST00000529892.5:c.481_483delinsATC | ||
| ENST00000529984.5:c.491_493delinsATC | ENSP00000437093.1:p.Tyr164= | |
| ENST00000531105.5:c.116-1107_116-1105delinsATC | ENSP00000431292.1:n.116-1107_116-1105delinsATC | |
| ENST00000533178.5:c.1035_1037delinsATC | ENSP00000436430.1:n.1035_1037delinsATC | |
| NM_001048171.1:c.1448_1450delinsATC | NP_001041636.1:p.Tyr483= | |
| NM_001048172.1:c.1409_1411delinsATC | NP_001041637.1:p.Tyr470= | |
| NM_001048173.1:c.1406_1408delinsATC | NP_001041638.1:p.Tyr469= | |
| NM_001048174.1:c.1406_1408delinsATC | NP_001041639.1:p.Tyr469= | |
| NM_001128425.1:c.1490_1492delinsATC , LRG_220t1:c.1490_1492delinsATC | NP_001121897.1:p.Tyr497= | |
| NM_001293190.1:c.1451_1453delinsATC | NP_001280119.1:p.Tyr484= | |
| NM_001293191.1:c.1439_1441delinsATC | NP_001280120.1:p.Tyr480= | |
| NM_001293192.1:c.1130_1132delinsATC | NP_001280121.1:p.Tyr377= | |
| NM_001293195.1:c.1406_1408delinsATC | NP_001280124.1:p.Tyr469= | |
| NM_001293196.1:c.1130_1132delinsATC | NP_001280125.1:p.Tyr377= | |
| NM_012222.2:c.1481_1483delinsATC | NP_036354.1:p.Tyr494= | |
| XM_011541497.1:c.1466_1468delinsATC | XP_011539799.1:p.Tyr489= | |
| XM_011541498.1:c.1448_1450delinsATC | XP_011539800.1:p.Tyr483= | |
| XM_011541499.1:c.1448_1450delinsATC | XP_011539801.1:p.Tyr483= | |
| XM_011541500.1:c.1448_1450delinsATC | XP_011539802.1:p.Tyr483= | |
| XM_011541501.1:c.1448_1450delinsATC | XP_011539803.1:p.Tyr483= | |
| XM_011541502.1:c.1448_1450delinsATC | XP_011539804.1:p.Tyr483= | |
| XM_011541503.1:c.1448_1450delinsATC | XP_011539805.1:p.Tyr483= | |
| XM_011541504.1:c.1439_1441delinsATC | XP_011539806.1:p.Tyr480= | |
| XM_011541505.1:c.1028_1030delinsATC | XP_011539807.1:p.Tyr343= | |
| XM_011541506.1:c.1028_1030delinsATC | XP_011539808.1:p.Tyr343= | |
| XM_011541507.1:c.1019_1021delinsATC | XP_011539809.1:p.Tyr340= | |
| XM_011541508.1:c.1034_1036delinsATC | XP_011539810.1:p.Tyr345= | |
| XR_946658.1:n.1537_1539delinsATC | ||
| NM_001350650.1:c.1061_1063delinsATC | NP_001337579.1:p.Tyr354= | |
| NM_001350651.1:c.1061_1063delinsATC | NP_001337580.1:p.Tyr354= | |
| NR_146882.1:n.1664_1666delinsATC | ||
| NR_146883.1:n.1478_1480delinsATC | ||
| XM_011541497.3:c.1466_1468delinsATC | XP_011539799.1:p.Tyr489= | |
| XM_011541500.3:c.1448_1450delinsATC | XP_011539802.1:p.Tyr483= | |
| XM_011541501.2:c.1448_1450delinsATC | XP_011539803.1:p.Tyr483= | |
| XM_011541502.2:c.1448_1450delinsATC | XP_011539804.1:p.Tyr483= | |
| XM_011541503.2:c.1448_1450delinsATC | XP_011539805.1:p.Tyr483= | |
| XM_011541504.2:c.1439_1441delinsATC | XP_011539806.1:p.Tyr480= | |
| XM_011541505.2:c.1028_1030delinsATC | XP_011539807.1:p.Tyr343= | |
| XM_011541506.2:c.1028_1030delinsATC | XP_011539808.1:p.Tyr343= | |
| XM_017001331.1:c.1448_1450delinsATC | XP_016856820.1:p.Tyr483= | |
| XM_017001332.1:c.1448_1450delinsATC | XP_016856821.1:p.Tyr483= | |
| XM_017001333.1:c.1448_1450delinsATC | XP_016856822.1:p.Tyr483= | |
| XM_017001334.1:c.1409_1411delinsATC | XP_016856823.1:p.Tyr470= | |
| XM_017001335.1:c.1130_1132delinsATC | XP_016856824.1:p.Tyr377= | |
| XM_017001336.1:c.1061_1063delinsATC | XP_016856825.1:p.Tyr354= | |
| XM_017001337.1:c.1061_1063delinsATC | XP_016856826.1:p.Tyr354= | |
| XM_024447244.1:c.1061_1063delinsATC | XP_024303012.1:p.Tyr354= | |
| XM_024447245.1:c.1061_1063delinsATC | XP_024303013.1:p.Tyr354= | |
| XM_024447248.1:c.1019_1021delinsATC | XP_024303016.1:p.Tyr340= | |
| XM_024447249.1:c.890_892delinsATC | XP_024303017.1:p.Tyr297= | |
| XM_024447250.1:c.890_892delinsATC | XP_024303018.1:p.Tyr297= | |
| XM_024447251.1:c.890_892delinsATC | XP_024303019.1:p.Tyr297= | |
| XR_001737190.1:n.1451_1453delinsATC | ||
| XR_001737192.1:n.1263_1265delinsATC | ||
| XR_002956643.1:n.1443_1445delinsATC | ||
| XR_002956644.1:n.1978_1980delinsATC | ||
| XR_946658.2:n.1551_1553delinsATC | ||
| NM_001048171.2:c.1406_1408delinsATC | NP_001041636.2:p.Tyr469= | |
| NM_001128425.2:c.1490_1492delinsATC MANE Plus Clinical | NP_001121897.1:p.Tyr497= | |
| NM_001048172.2:c.1409_1411delinsATC | NP_001041637.1:p.Tyr470= | |
| NM_001048173.2:c.1406_1408delinsATC | NP_001041638.1:p.Tyr469= | |
| NM_001048174.2:c.1406_1408delinsATC MANE Select | NP_001041639.1:p.Tyr469= | |
| NM_001293190.2:c.1451_1453delinsATC | NP_001280119.1:p.Tyr484= | |
| NM_001293191.2:c.1439_1441delinsATC | NP_001280120.1:p.Tyr480= | |
| NM_001293192.2:c.1130_1132delinsATC | NP_001280121.1:p.Tyr377= | |
| NM_001293195.2:c.1406_1408delinsATC | NP_001280124.1:p.Tyr469= | |
| NM_001293196.2:c.1130_1132delinsATC | NP_001280125.1:p.Tyr377= | |
| NM_001350650.2:c.1061_1063delinsATC | NP_001337579.1:p.Tyr354= | |
| NM_001350651.2:c.1061_1063delinsATC | NP_001337580.1:p.Tyr354= | |
| NM_012222.3:c.1481_1483delinsATC | NP_036354.1:p.Tyr494= | |
| NR_146882.2:n.1634_1636delinsATC | ||
| NR_146883.2:n.1483_1485delinsATC |