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_000007.14:g.5986394_5986395delinsAG , CM000669.2:g.5986394_5986395delinsAG | GRCh38 |
| NC_000007.13:g.6026025_6026026delinsAG , CM000669.1:g.6026025_6026026delinsAG | GRCh37 |
| NC_000007.12:g.5992551_5992552delinsAG | NCBI36 |
| NG_008466.1:g.27712_27713delinsCT , LRG_161:g.27712_27713delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1402+364_*1402+365delinsCT | ENSP00000514615.2:n.*1402+364_*1402+365delinsCT | |
| ENST00000699840.2:c.2003+364_2003+365delinsCT | ENSP00000514638.2:n.2003+364_2003+365delinsCT | |
| ENST00000699930.2:c.1898+364_1898+365delinsCT | ENSP00000514695.2:n.1898+364_1898+365delinsCT | |
| ENST00000406569.8:c.1678+692_1678+693delinsCT | ENSP00000514464.1:n.1678+692_1678+693delinsCT | |
| ENST00000644110.2:c.*1600+364_*1600+365delinsCT | ENSP00000496392.2:n.*1600+364_*1600+365delinsCT | |
| ENST00000699752.1:c.1850+364_1850+365delinsCT | ENSP00000514561.1:n.1850+364_1850+365delinsCT | |
| ENST00000699753.1:c.*1427+364_*1427+365delinsCT | ENSP00000514562.1:n.*1427+364_*1427+365delinsCT | |
| ENST00000699754.1:c.1808+364_1808+365delinsCT | ENSP00000514563.1:n.1808+364_1808+365delinsCT | |
| ENST00000699755.1:c.*1405+364_*1405+365delinsCT | ENSP00000514564.1:n.*1405+364_*1405+365delinsCT | |
| ENST00000699756.1:c.*1593+364_*1593+365delinsCT | ENSP00000514565.1:n.*1593+364_*1593+365delinsCT | |
| ENST00000699757.1:c.*1263+364_*1263+365delinsCT | ENSP00000514566.1:n.*1263+364_*1263+365delinsCT | |
| ENST00000699758.1:c.*1263+364_*1263+365delinsCT | ENSP00000514567.1:n.*1263+364_*1263+365delinsCT | |
| ENST00000699759.1:n.2860+364_2860+365delinsCT | ||
| ENST00000699760.1:c.1688+364_1688+365delinsCT | ENSP00000514568.1:n.1688+364_1688+365delinsCT | |
| ENST00000699761.1:c.1601+364_1601+365delinsCT | ENSP00000514569.1:n.1601+364_1601+365delinsCT | |
| ENST00000699762.1:c.1433+364_1433+365delinsCT | ENSP00000514570.1:n.1433+364_1433+365delinsCT | |
| ENST00000699763.1:c.*1096+364_*1096+365delinsCT | ENSP00000514571.1:n.*1096+364_*1096+365delinsCT | |
| ENST00000699764.1:c.*324+364_*324+365delinsCT | ENSP00000514572.1:n.*324+364_*324+365delinsCT | |
| ENST00000699765.1:c.*1102+364_*1102+365delinsCT | ENSP00000514573.1:n.*1102+364_*1102+365delinsCT | |
| ENST00000699766.1:c.2006+364_2006+365delinsCT | ENSP00000514574.1:n.2006+364_2006+365delinsCT | |
| ENST00000699767.1:c.2006+364_2006+365delinsCT | ENSP00000514575.1:n.2006+364_2006+365delinsCT | |
| ENST00000699768.1:c.2006+364_2006+365delinsCT | ENSP00000514576.1:n.2006+364_2006+365delinsCT | |
| ENST00000699811.1:c.1601+364_1601+365delinsCT | ENSP00000514614.1:n.1601+364_1601+365delinsCT | |
| ENST00000699813.1:n.2119+364_2119+365delinsCT | ||
| ENST00000699814.1:c.1629+364_1629+365delinsCT | ||
| ENST00000699815.1:c.*1537+364_*1537+365delinsCT | ENSP00000514616.1:n.*1537+364_*1537+365delinsCT | |
| ENST00000699816.1:c.*896+364_*896+365delinsCT | ENSP00000514617.1:n.*896+364_*896+365delinsCT | |
| ENST00000699817.1:c.*1600+364_*1600+365delinsCT | ENSP00000514618.1:n.*1600+364_*1600+365delinsCT | |
| ENST00000699818.1:c.1601+364_1601+365delinsCT | ENSP00000514619.1:n.1601+364_1601+365delinsCT | |
| ENST00000699819.1:c.*1163+364_*1163+365delinsCT | ENSP00000514620.1:n.*1163+364_*1163+365delinsCT | |
| ENST00000699820.1:c.1145-3404_1145-3403delinsCT | ENSP00000514621.1:n.1145-3404_1145-3403delinsCT | |
| ENST00000699821.1:c.1601+364_1601+365delinsCT | ENSP00000514622.1:n.1601+364_1601+365delinsCT | |
| ENST00000699822.1:c.*1458+364_*1458+365delinsCT | ENSP00000514623.1:n.*1458+364_*1458+365delinsCT | |
| ENST00000699823.1:c.1601+364_1601+365delinsCT | ENSP00000514624.1:n.1601+364_1601+365delinsCT | |
| ENST00000699824.1:c.*1509+364_*1509+365delinsCT | ENSP00000514625.1:n.*1509+364_*1509+365delinsCT | |
| ENST00000699825.1:c.1445+364_1445+365delinsCT | ENSP00000514626.1:n.1445+364_1445+365delinsCT | |
| ENST00000699826.1:c.*1405+364_*1405+365delinsCT | ENSP00000514627.1:n.*1405+364_*1405+365delinsCT | |
| ENST00000699827.1:c.1838+364_1838+365delinsCT | ENSP00000514628.1:n.1838+364_1838+365delinsCT | |
| ENST00000699828.1:c.*1096+364_*1096+365delinsCT | ENSP00000514629.1:n.*1096+364_*1096+365delinsCT | |
| ENST00000699833.1:n.3778+364_3778+365delinsCT | ||
| ENST00000699837.1:c.1601+364_1601+365delinsCT | ENSP00000514635.1:n.1601+364_1601+365delinsCT | |
| ENST00000699838.1:c.*1906+364_*1906+365delinsCT | ENSP00000514636.1:n.*1906+364_*1906+365delinsCT | |
| ENST00000699839.1:c.2192+364_2192+365delinsCT | ENSP00000514637.1:n.2192+364_2192+365delinsCT | |
| ENST00000699916.1:c.*1263+364_*1263+365delinsCT | ENSP00000514684.1:n.*1263+364_*1263+365delinsCT | |
| ENST00000699917.1:c.*1455+364_*1455+365delinsCT | ENSP00000514685.1:n.*1455+364_*1455+365delinsCT | |
| ENST00000699918.1:c.*1507+364_*1507+365delinsCT | ENSP00000514686.1:n.*1507+364_*1507+365delinsCT | |
| ENST00000699919.1:c.*1593+364_*1593+365delinsCT | ENSP00000514687.1:n.*1593+364_*1593+365delinsCT | |
| ENST00000699920.1:c.*1642+364_*1642+365delinsCT | ENSP00000514688.1:n.*1642+364_*1642+365delinsCT | |
| ENST00000699928.1:c.989-3404_989-3403delinsCT | ENSP00000514693.1:n.989-3404_989-3403delinsCT | |
| ENST00000699951.1:c.*1102+364_*1102+365delinsCT | ENSP00000514706.1:n.*1102+364_*1102+365delinsCT | |
| ENST00000699952.1:c.803+10931_803+10932delinsCT | ENSP00000514707.1:n.803+10931_803+10932delinsCT | |
| ENST00000265849.12:c.2006+364_2006+365delinsCT MANE Select | ENSP00000265849.7:n.2006+364_2006+365delinsCT | |
| ENST00000642292.1:c.1601+364_1601+365delinsCT | ENSP00000495524.1:n.1601+364_1601+365delinsCT | |
| ENST00000642456.1:c.1601+364_1601+365delinsCT | ENSP00000493814.1:n.1601+364_1601+365delinsCT | |
| ENST00000643595.1:c.*1405+364_*1405+365delinsCT | ENSP00000494497.1:n.*1405+364_*1405+365delinsCT | |
| ENST00000644110.1:c.1688+364_1688+365delinsCT | ENSP00000496392.1:n.1688+364_1688+365delinsCT | |
| ENST00000265849.11:c.2006+364_2006+365delinsCT | ENSP00000265849.7:n.2006+364_2006+365delinsCT | |
| ENST00000382321.5:c.804-3404_804-3403delinsCT | ENSP00000371758.4:n.804-3404_804-3403delinsCT | |
| ENST00000406569.7:n.1678+692_1678+693delinsCT | ||
| ENST00000441476.6:c.1688+364_1688+365delinsCT | ENSP00000392843.2:n.1688+364_1688+365delinsCT | |
| ENST00000469652.1:n.63-3490_63-3489delinsCT | ||
| NM_000535.5:c.2006+364_2006+365delinsCT , LRG_161t1:c.2006+364_2006+365delinsCT | NP_000526.1:n.2006+364_2006+365delinsCT | |
| NR_003085.2:n.2088+364_2088+365delinsCT | ||
| XM_006715742.2:c.2000+364_2000+365delinsCT | XP_006715805.1:n.2000+364_2000+365delinsCT | |
| XM_006715744.2:c.1073+364_1073+365delinsCT | XP_006715807.1:n.1073+364_1073+365delinsCT | |
| XM_011515427.1:c.2051+364_2051+365delinsCT | XP_011513729.1:n.2051+364_2051+365delinsCT | |
| XM_011515428.1:c.1895+364_1895+365delinsCT | XP_011513730.1:n.1895+364_1895+365delinsCT | |
| XM_011515429.1:c.1688+364_1688+365delinsCT | XP_011513731.1:n.1688+364_1688+365delinsCT | |
| XM_011515430.1:c.1688+364_1688+365delinsCT | XP_011513732.1:n.1688+364_1688+365delinsCT | |
| NM_000535.6:c.2006+364_2006+365delinsCT | NP_000526.2:n.2006+364_2006+365delinsCT | |
| NM_001322003.1:c.1601+364_1601+365delinsCT | NP_001308932.1:n.1601+364_1601+365delinsCT | |
| NM_001322004.1:c.1601+364_1601+365delinsCT | NP_001308933.1:n.1601+364_1601+365delinsCT | |
| NM_001322005.1:c.1601+364_1601+365delinsCT | NP_001308934.1:n.1601+364_1601+365delinsCT | |
| NM_001322006.1:c.1850+364_1850+365delinsCT | NP_001308935.1:n.1850+364_1850+365delinsCT | |
| NM_001322007.1:c.1688+364_1688+365delinsCT | NP_001308936.1:n.1688+364_1688+365delinsCT | |
| NM_001322008.1:c.1688+364_1688+365delinsCT | NP_001308937.1:n.1688+364_1688+365delinsCT | |
| NM_001322009.1:c.1601+364_1601+365delinsCT | NP_001308938.1:n.1601+364_1601+365delinsCT | |
| NM_001322010.1:c.1445+364_1445+365delinsCT | NP_001308939.1:n.1445+364_1445+365delinsCT | |
| NM_001322011.1:c.1073+364_1073+365delinsCT | NP_001308940.1:n.1073+364_1073+365delinsCT | |
| NM_001322012.1:c.1073+364_1073+365delinsCT | NP_001308941.1:n.1073+364_1073+365delinsCT | |
| NM_001322013.1:c.1433+364_1433+365delinsCT | NP_001308942.1:n.1433+364_1433+365delinsCT | |
| NM_001322014.1:c.2006+364_2006+365delinsCT | NP_001308943.1:n.2006+364_2006+365delinsCT | |
| NM_001322015.1:c.1697+364_1697+365delinsCT | NP_001308944.1:n.1697+364_1697+365delinsCT | |
| NR_136154.1:n.2093+364_2093+365delinsCT | ||
| XM_006715744.4:c.1073+364_1073+365delinsCT | XP_006715807.1:n.1073+364_1073+365delinsCT | |
| XM_017012342.2:c.1073+364_1073+365delinsCT | XP_016867831.1:n.1073+364_1073+365delinsCT | |
| XM_024446800.1:c.1445+364_1445+365delinsCT | XP_024302568.1:n.1445+364_1445+365delinsCT | |
| NM_000535.7:c.2006+364_2006+365delinsCT MANE Select | NP_000526.2:n.2006+364_2006+365delinsCT | |
| NM_001322003.2:c.1601+364_1601+365delinsCT | NP_001308932.1:n.1601+364_1601+365delinsCT | |
| NM_001322004.2:c.1601+364_1601+365delinsCT | NP_001308933.1:n.1601+364_1601+365delinsCT | |
| NM_001322005.2:c.1601+364_1601+365delinsCT | NP_001308934.1:n.1601+364_1601+365delinsCT | |
| NM_001322006.2:c.1850+364_1850+365delinsCT | NP_001308935.1:n.1850+364_1850+365delinsCT | |
| NM_001322008.2:c.1688+364_1688+365delinsCT | NP_001308937.1:n.1688+364_1688+365delinsCT | |
| NM_001322009.2:c.1601+364_1601+365delinsCT | NP_001308938.1:n.1601+364_1601+365delinsCT | |
| NM_001322010.2:c.1445+364_1445+365delinsCT | NP_001308939.1:n.1445+364_1445+365delinsCT | |
| NM_001322011.2:c.1073+364_1073+365delinsCT | NP_001308940.1:n.1073+364_1073+365delinsCT | |
| NM_001322012.2:c.1073+364_1073+365delinsCT | NP_001308941.1:n.1073+364_1073+365delinsCT | |
| NM_001322013.2:c.1433+364_1433+365delinsCT | NP_001308942.1:n.1433+364_1433+365delinsCT | |
| NM_001322014.2:c.2006+364_2006+365delinsCT | NP_001308943.1:n.2006+364_2006+365delinsCT | |
| NM_001322015.2:c.1697+364_1697+365delinsCT | NP_001308944.1:n.1697+364_1697+365delinsCT | |
| NM_001322007.2:c.1688+364_1688+365delinsCT | NP_001308936.1:n.1688+364_1688+365delinsCT |