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.5989468_5989469delinsAG , CM000669.2:g.5989468_5989469delinsAG | GRCh38 |
| NC_000007.13:g.6029099_6029100delinsAG , CM000669.1:g.6029099_6029100delinsAG | GRCh37 |
| NC_000007.12:g.5995625_5995626delinsAG | NCBI36 |
| NG_008466.1:g.24638_24639delinsCT , LRG_161:g.24638_24639delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*540+331_*540+332delinsCT | ENSP00000514615.2:n.*540+331_*540+332delinsCT | |
| ENST00000699840.2:c.1141+331_1141+332delinsCT | ENSP00000514638.2:n.1141+331_1141+332delinsCT | |
| ENST00000699930.2:c.1036+331_1036+332delinsCT | ENSP00000514695.2:n.1036+331_1036+332delinsCT | |
| ENST00000406569.8:c.1144+331_1144+332delinsCT | ENSP00000514464.1:n.1144+331_1144+332delinsCT | |
| ENST00000644110.2:c.*738+331_*738+332delinsCT | ENSP00000496392.2:n.*738+331_*738+332delinsCT | |
| ENST00000699752.1:c.989-1849_989-1848delinsCT | ENSP00000514561.1:n.989-1849_989-1848delinsCT | |
| ENST00000699753.1:c.*565+331_*565+332delinsCT | ENSP00000514562.1:n.*565+331_*565+332delinsCT | |
| ENST00000699754.1:c.946+331_946+332delinsCT | ENSP00000514563.1:n.946+331_946+332delinsCT | |
| ENST00000699755.1:c.*543+331_*543+332delinsCT | ENSP00000514564.1:n.*543+331_*543+332delinsCT | |
| ENST00000699756.1:c.*731+331_*731+332delinsCT | ENSP00000514565.1:n.*731+331_*731+332delinsCT | |
| ENST00000699757.1:c.*401+331_*401+332delinsCT | ENSP00000514566.1:n.*401+331_*401+332delinsCT | |
| ENST00000699758.1:c.*401+331_*401+332delinsCT | ENSP00000514567.1:n.*401+331_*401+332delinsCT | |
| ENST00000699759.1:n.1998+331_1998+332delinsCT | ||
| ENST00000699760.1:c.826+331_826+332delinsCT | ENSP00000514568.1:n.826+331_826+332delinsCT | |
| ENST00000699761.1:c.739+331_739+332delinsCT | ENSP00000514569.1:n.739+331_739+332delinsCT | |
| ENST00000699762.1:c.571+331_571+332delinsCT | ENSP00000514570.1:n.571+331_571+332delinsCT | |
| ENST00000699763.1:c.*234+331_*234+332delinsCT | ENSP00000514571.1:n.*234+331_*234+332delinsCT | |
| ENST00000699764.1:c.1144+331_1144+332delinsCT | ENSP00000514572.1:n.1144+331_1144+332delinsCT | |
| ENST00000699765.1:c.*240+331_*240+332delinsCT | ENSP00000514573.1:n.*240+331_*240+332delinsCT | |
| ENST00000699766.1:c.1144+331_1144+332delinsCT | ENSP00000514574.1:n.1144+331_1144+332delinsCT | |
| ENST00000699767.1:c.1144+331_1144+332delinsCT | ENSP00000514575.1:n.1144+331_1144+332delinsCT | |
| ENST00000699768.1:c.1144+331_1144+332delinsCT | ENSP00000514576.1:n.1144+331_1144+332delinsCT | |
| ENST00000699811.1:c.739+331_739+332delinsCT | ENSP00000514614.1:n.739+331_739+332delinsCT | |
| ENST00000699813.1:n.1257+331_1257+332delinsCT | ||
| ENST00000699814.1:c.767+331_767+332delinsCT | ||
| ENST00000699815.1:c.*636+331_*636+332delinsCT | ENSP00000514616.1:n.*636+331_*636+332delinsCT | |
| ENST00000699816.1:c.739+331_739+332delinsCT | ENSP00000514617.1:n.739+331_739+332delinsCT | |
| ENST00000699817.1:c.*738+331_*738+332delinsCT | ENSP00000514618.1:n.*738+331_*738+332delinsCT | |
| ENST00000699818.1:c.739+331_739+332delinsCT | ENSP00000514619.1:n.739+331_739+332delinsCT | |
| ENST00000699819.1:c.*301+331_*301+332delinsCT | ENSP00000514620.1:n.*301+331_*301+332delinsCT | |
| ENST00000699820.1:c.1144+331_1144+332delinsCT | ENSP00000514621.1:n.1144+331_1144+332delinsCT | |
| ENST00000699821.1:c.739+331_739+332delinsCT | ENSP00000514622.1:n.739+331_739+332delinsCT | |
| ENST00000699822.1:c.*596+331_*596+332delinsCT | ENSP00000514623.1:n.*596+331_*596+332delinsCT | |
| ENST00000699823.1:c.739+331_739+332delinsCT | ENSP00000514624.1:n.739+331_739+332delinsCT | |
| ENST00000699824.1:c.*647+331_*647+332delinsCT | ENSP00000514625.1:n.*647+331_*647+332delinsCT | |
| ENST00000699825.1:c.584-1849_584-1848delinsCT | ENSP00000514626.1:n.584-1849_584-1848delinsCT | |
| ENST00000699826.1:c.*543+331_*543+332delinsCT | ENSP00000514627.1:n.*543+331_*543+332delinsCT | |
| ENST00000699827.1:c.976+331_976+332delinsCT | ENSP00000514628.1:n.976+331_976+332delinsCT | |
| ENST00000699828.1:c.*234+331_*234+332delinsCT | ENSP00000514629.1:n.*234+331_*234+332delinsCT | |
| ENST00000699829.1:c.*645+331_*645+332delinsCT | ENSP00000514630.1:n.*645+331_*645+332delinsCT | |
| ENST00000699830.1:c.*543+331_*543+332delinsCT | ENSP00000514631.1:n.*543+331_*543+332delinsCT | |
| ENST00000699833.1:n.2916+331_2916+332delinsCT | ||
| ENST00000699837.1:c.739+331_739+332delinsCT | ENSP00000514635.1:n.739+331_739+332delinsCT | |
| ENST00000699838.1:c.*1044+331_*1044+332delinsCT | ENSP00000514636.1:n.*1044+331_*1044+332delinsCT | |
| ENST00000699839.1:c.1330+331_1330+332delinsCT | ENSP00000514637.1:n.1330+331_1330+332delinsCT | |
| ENST00000699840.1:c.1141+331_1141+332delinsCT | ENSP00000514638.1:n.1141+331_1141+332delinsCT | |
| ENST00000699916.1:c.*401+331_*401+332delinsCT | ENSP00000514684.1:n.*401+331_*401+332delinsCT | |
| ENST00000699917.1:c.*593+331_*593+332delinsCT | ENSP00000514685.1:n.*593+331_*593+332delinsCT | |
| ENST00000699918.1:c.*645+331_*645+332delinsCT | ENSP00000514686.1:n.*645+331_*645+332delinsCT | |
| ENST00000699919.1:c.*731+331_*731+332delinsCT | ENSP00000514687.1:n.*731+331_*731+332delinsCT | |
| ENST00000699920.1:c.*780+331_*780+332delinsCT | ENSP00000514688.1:n.*780+331_*780+332delinsCT | |
| ENST00000699928.1:c.988+2504_988+2505delinsCT | ENSP00000514693.1:n.988+2504_988+2505delinsCT | |
| ENST00000699929.1:c.*445+331_*445+332delinsCT | ENSP00000514694.1:n.*445+331_*445+332delinsCT | |
| ENST00000699930.1:c.1036+331_1036+332delinsCT | ENSP00000514695.1:n.1036+331_1036+332delinsCT | |
| ENST00000699931.1:n.2572+331_2572+332delinsCT | ||
| ENST00000699932.1:c.*362+331_*362+332delinsCT | ENSP00000514696.1:n.*362+331_*362+332delinsCT | |
| ENST00000699951.1:c.*240+331_*240+332delinsCT | ENSP00000514706.1:n.*240+331_*240+332delinsCT | |
| ENST00000699952.1:c.803+7857_803+7858delinsCT | ENSP00000514707.1:n.803+7857_803+7858delinsCT | |
| ENST00000699953.1:c.*251+331_*251+332delinsCT | ENSP00000514708.1:n.*251+331_*251+332delinsCT | |
| ENST00000699954.1:c.*445+331_*445+332delinsCT | ENSP00000514709.1:n.*445+331_*445+332delinsCT | |
| ENST00000265849.12:c.1144+331_1144+332delinsCT MANE Select | ENSP00000265849.7:n.1144+331_1144+332delinsCT | |
| ENST00000642292.1:c.739+331_739+332delinsCT | ENSP00000495524.1:n.739+331_739+332delinsCT | |
| ENST00000642456.1:c.739+331_739+332delinsCT | ENSP00000493814.1:n.739+331_739+332delinsCT | |
| ENST00000643595.1:c.*543+331_*543+332delinsCT | ENSP00000494497.1:n.*543+331_*543+332delinsCT | |
| ENST00000644110.1:c.826+331_826+332delinsCT | ENSP00000496392.1:n.826+331_826+332delinsCT | |
| ENST00000265849.11:c.1144+331_1144+332delinsCT | ENSP00000265849.7:n.1144+331_1144+332delinsCT | |
| ENST00000382321.5:c.804-6478_804-6477delinsCT | ENSP00000371758.4:n.804-6478_804-6477delinsCT | |
| ENST00000406569.7:n.1144+331_1144+332delinsCT | ||
| ENST00000441476.6:c.826+331_826+332delinsCT | ENSP00000392843.2:n.826+331_826+332delinsCT | |
| ENST00000469652.1:n.63-6564_63-6563delinsCT | ||
| NM_000535.5:c.1144+331_1144+332delinsCT , LRG_161t1:c.1144+331_1144+332delinsCT | NP_000526.1:n.1144+331_1144+332delinsCT | |
| NR_003085.2:n.1226+331_1226+332delinsCT | ||
| XM_006715742.2:c.1138+331_1138+332delinsCT | XP_006715805.1:n.1138+331_1138+332delinsCT | |
| XM_006715744.2:c.211+331_211+332delinsCT | XP_006715807.1:n.211+331_211+332delinsCT | |
| XM_011515427.1:c.1189+331_1189+332delinsCT | XP_011513729.1:n.1189+331_1189+332delinsCT | |
| XM_011515428.1:c.1034-1849_1034-1848delinsCT | XP_011513730.1:n.1034-1849_1034-1848delinsCT | |
| XM_011515429.1:c.826+331_826+332delinsCT | XP_011513731.1:n.826+331_826+332delinsCT | |
| XM_011515430.1:c.826+331_826+332delinsCT | XP_011513732.1:n.826+331_826+332delinsCT | |
| NM_000535.6:c.1144+331_1144+332delinsCT | NP_000526.2:n.1144+331_1144+332delinsCT | |
| NM_001322003.1:c.739+331_739+332delinsCT | NP_001308932.1:n.739+331_739+332delinsCT | |
| NM_001322004.1:c.739+331_739+332delinsCT | NP_001308933.1:n.739+331_739+332delinsCT | |
| NM_001322005.1:c.739+331_739+332delinsCT | NP_001308934.1:n.739+331_739+332delinsCT | |
| NM_001322006.1:c.989-1849_989-1848delinsCT | NP_001308935.1:n.989-1849_989-1848delinsCT | |
| NM_001322007.1:c.826+331_826+332delinsCT | NP_001308936.1:n.826+331_826+332delinsCT | |
| NM_001322008.1:c.826+331_826+332delinsCT | NP_001308937.1:n.826+331_826+332delinsCT | |
| NM_001322009.1:c.739+331_739+332delinsCT | NP_001308938.1:n.739+331_739+332delinsCT | |
| NM_001322010.1:c.584-1849_584-1848delinsCT | NP_001308939.1:n.584-1849_584-1848delinsCT | |
| NM_001322011.1:c.211+331_211+332delinsCT | NP_001308940.1:n.211+331_211+332delinsCT | |
| NM_001322012.1:c.211+331_211+332delinsCT | NP_001308941.1:n.211+331_211+332delinsCT | |
| NM_001322013.1:c.571+331_571+332delinsCT | NP_001308942.1:n.571+331_571+332delinsCT | |
| NM_001322014.1:c.1144+331_1144+332delinsCT | NP_001308943.1:n.1144+331_1144+332delinsCT | |
| NM_001322015.1:c.835+331_835+332delinsCT | NP_001308944.1:n.835+331_835+332delinsCT | |
| NR_136154.1:n.1231+331_1231+332delinsCT | ||
| XM_006715744.4:c.211+331_211+332delinsCT | XP_006715807.1:n.211+331_211+332delinsCT | |
| XM_017012342.2:c.211+331_211+332delinsCT | XP_016867831.1:n.211+331_211+332delinsCT | |
| XM_024446800.1:c.584-1849_584-1848delinsCT | XP_024302568.1:n.584-1849_584-1848delinsCT | |
| NM_000535.7:c.1144+331_1144+332delinsCT MANE Select | NP_000526.2:n.1144+331_1144+332delinsCT | |
| NM_001322003.2:c.739+331_739+332delinsCT | NP_001308932.1:n.739+331_739+332delinsCT | |
| NM_001322004.2:c.739+331_739+332delinsCT | NP_001308933.1:n.739+331_739+332delinsCT | |
| NM_001322005.2:c.739+331_739+332delinsCT | NP_001308934.1:n.739+331_739+332delinsCT | |
| NM_001322006.2:c.989-1849_989-1848delinsCT | NP_001308935.1:n.989-1849_989-1848delinsCT | |
| NM_001322008.2:c.826+331_826+332delinsCT | NP_001308937.1:n.826+331_826+332delinsCT | |
| NM_001322009.2:c.739+331_739+332delinsCT | NP_001308938.1:n.739+331_739+332delinsCT | |
| NM_001322010.2:c.584-1849_584-1848delinsCT | NP_001308939.1:n.584-1849_584-1848delinsCT | |
| NM_001322011.2:c.211+331_211+332delinsCT | NP_001308940.1:n.211+331_211+332delinsCT | |
| NM_001322012.2:c.211+331_211+332delinsCT | NP_001308941.1:n.211+331_211+332delinsCT | |
| NM_001322013.2:c.571+331_571+332delinsCT | NP_001308942.1:n.571+331_571+332delinsCT | |
| NM_001322014.2:c.1144+331_1144+332delinsCT | NP_001308943.1:n.1144+331_1144+332delinsCT | |
| NM_001322015.2:c.835+331_835+332delinsCT | NP_001308944.1:n.835+331_835+332delinsCT | |
| NM_001322007.2:c.826+331_826+332delinsCT | NP_001308936.1:n.826+331_826+332delinsCT |