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.5987364_5987430del , CM000669.2:g.5987364_5987430del | GRCh38 |
| NC_000007.13:g.6026995_6027061del , CM000669.1:g.6026995_6027061del | GRCh37 |
| NC_000007.12:g.5993521_5993587del | NCBI36 |
| NG_008466.1:g.26678_26744del , LRG_161:g.26678_26744del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*732_*798del | ENSP00000514615.2:n.*732_*798del | |
| ENST00000699840.2:c.1333_1399del | ENSP00000514638.2:p.Pro445Ter | |
| ENST00000699930.2:c.1228_1294del | ENSP00000514695.2:p.Pro410Ter | |
| ENST00000406569.8:c.1336_1402del | ENSP00000514464.1:p.Pro446Ter | |
| ENST00000644110.2:c.*930_*996del | ENSP00000496392.2:n.*930_*996del | |
| ENST00000699752.1:c.1180_1246del | ENSP00000514561.1:p.Pro394Ter | |
| ENST00000699753.1:c.*757_*823del | ENSP00000514562.1:n.*757_*823del | |
| ENST00000699754.1:c.1138_1204del | ENSP00000514563.1:p.Pro380Ter | |
| ENST00000699755.1:c.*735_*801del | ENSP00000514564.1:n.*735_*801del | |
| ENST00000699756.1:c.*923_*989del | ENSP00000514565.1:n.*923_*989del | |
| ENST00000699757.1:c.*593_*659del | ENSP00000514566.1:n.*593_*659del | |
| ENST00000699758.1:c.*593_*659del | ENSP00000514567.1:n.*593_*659del | |
| ENST00000699759.1:n.2190_2256del | ||
| ENST00000699760.1:c.1018_1084del | ENSP00000514568.1:p.Pro340Ter | |
| ENST00000699761.1:c.931_997del | ENSP00000514569.1:p.Pro311Ter | |
| ENST00000699762.1:c.763_829del | ENSP00000514570.1:p.Pro255Ter | |
| ENST00000699763.1:c.*426_*492del | ENSP00000514571.1:n.*426_*492del | |
| ENST00000699764.1:c.1336_1402del | ENSP00000514572.1:p.Pro446Ter | |
| ENST00000699765.1:c.*432_*498del | ENSP00000514573.1:n.*432_*498del | |
| ENST00000699766.1:c.1336_1402del | ENSP00000514574.1:p.Pro446Ter | |
| ENST00000699767.1:c.1336_1402del | ENSP00000514575.1:p.Pro446Ter | |
| ENST00000699768.1:c.1336_1402del | ENSP00000514576.1:p.Pro446Ter | |
| ENST00000699811.1:c.931_997del | ENSP00000514614.1:p.Pro311Ter | |
| ENST00000699813.1:n.1449_1515del | ||
| ENST00000699814.1:c.959_1025del | ||
| ENST00000699815.1:c.*867_*933del | ENSP00000514616.1:n.*867_*933del | |
| ENST00000699816.1:c.*226_*292del | ENSP00000514617.1:n.*226_*292del | |
| ENST00000699817.1:c.*930_*996del | ENSP00000514618.1:n.*930_*996del | |
| ENST00000699818.1:c.931_997del | ENSP00000514619.1:p.Pro311Ter | |
| ENST00000699819.1:c.*493_*559del | ENSP00000514620.1:n.*493_*559del | |
| ENST00000699820.1:c.1144+2371_1144+2437del | ENSP00000514621.1:n.1144+2371_1144+2437del | |
| ENST00000699821.1:c.931_997del | ENSP00000514622.1:p.Pro311Ter | |
| ENST00000699822.1:c.*788_*854del | ENSP00000514623.1:n.*788_*854del | |
| ENST00000699823.1:c.931_997del | ENSP00000514624.1:p.Pro311Ter | |
| ENST00000699824.1:c.*839_*905del | ENSP00000514625.1:n.*839_*905del | |
| ENST00000699825.1:c.775_841del | ENSP00000514626.1:p.Pro259Ter | |
| ENST00000699826.1:c.*735_*801del | ENSP00000514627.1:n.*735_*801del | |
| ENST00000699827.1:c.1168_1234del | ENSP00000514628.1:p.Pro390Ter | |
| ENST00000699828.1:c.*426_*492del | ENSP00000514629.1:n.*426_*492del | |
| ENST00000699833.1:n.3108_3174del | ||
| ENST00000699837.1:c.931_997del | ENSP00000514635.1:p.Pro311Ter | |
| ENST00000699838.1:c.*1236_*1302del | ENSP00000514636.1:n.*1236_*1302del | |
| ENST00000699839.1:c.1522_1588del | ENSP00000514637.1:p.Pro508Ter | |
| ENST00000699916.1:c.*593_*659del | ENSP00000514684.1:n.*593_*659del | |
| ENST00000699917.1:c.*785_*851del | ENSP00000514685.1:n.*785_*851del | |
| ENST00000699918.1:c.*837_*903del | ENSP00000514686.1:n.*837_*903del | |
| ENST00000699919.1:c.*923_*989del | ENSP00000514687.1:n.*923_*989del | |
| ENST00000699920.1:c.*972_*1038del | ENSP00000514688.1:n.*972_*1038del | |
| ENST00000699928.1:c.989-4438_989-4372del | ENSP00000514693.1:n.989-4438_989-4372del | |
| ENST00000699929.1:c.*637_*703del | ENSP00000514694.1:n.*637_*703del | |
| ENST00000699930.1:c.1228_1294del | ENSP00000514695.1:p.Pro410Ter | |
| ENST00000699931.1:n.2764_2830del | ||
| ENST00000699951.1:c.*432_*498del | ENSP00000514706.1:n.*432_*498del | |
| ENST00000699952.1:c.803+9897_803+9963del | ENSP00000514707.1:n.803+9897_803+9963del | |
| ENST00000699953.1:c.*443_*509del | ENSP00000514708.1:n.*443_*509del | |
| ENST00000699954.1:c.*637_*703del | ENSP00000514709.1:n.*637_*703del | |
| ENST00000265849.12:c.1336_1402del MANE Select | ENSP00000265849.7:p.Pro446Ter | |
| ENST00000642292.1:c.931_997del | ENSP00000495524.1:p.Pro311Ter | |
| ENST00000642456.1:c.931_997del | ENSP00000493814.1:p.Pro311Ter | |
| ENST00000643595.1:c.*735_*801del | ENSP00000494497.1:n.*735_*801del | |
| ENST00000644110.1:c.1018_1084del | ENSP00000496392.1:p.Pro340Ter | |
| ENST00000265849.11:c.1336_1402del | ENSP00000265849.7:p.Pro446Ter | |
| ENST00000382321.5:c.804-4438_804-4372del | ENSP00000371758.4:n.804-4438_804-4372del | |
| ENST00000406569.7:n.1336_1402del | ||
| ENST00000441476.6:c.1018_1084del | ENSP00000392843.2:p.Pro340Ter | |
| ENST00000469652.1:n.63-4524_63-4458del | ||
| NM_000535.5:c.1336_1402del , LRG_161t1:c.1336_1402del | NP_000526.1:p.Pro446Ter | |
| NR_003085.2:n.1418_1484del | ||
| XM_006715742.2:c.1330_1396del | XP_006715805.1:p.Pro444Ter | |
| XM_006715744.2:c.403_469del | XP_006715807.1:p.Pro135Ter | |
| XM_011515427.1:c.1381_1447del | XP_011513729.1:p.Pro461Ter | |
| XM_011515428.1:c.1225_1291del | XP_011513730.1:p.Pro409Ter | |
| XM_011515429.1:c.1018_1084del | XP_011513731.1:p.Pro340Ter | |
| XM_011515430.1:c.1018_1084del | XP_011513732.1:p.Pro340Ter | |
| NM_000535.6:c.1336_1402del | NP_000526.2:p.Pro446Ter | |
| NM_001322003.1:c.931_997del | NP_001308932.1:p.Pro311Ter | |
| NM_001322004.1:c.931_997del | NP_001308933.1:p.Pro311Ter | |
| NM_001322005.1:c.931_997del | NP_001308934.1:p.Pro311Ter | |
| NM_001322006.1:c.1180_1246del | NP_001308935.1:p.Pro394Ter | |
| NM_001322007.1:c.1018_1084del | NP_001308936.1:p.Pro340Ter | |
| NM_001322008.1:c.1018_1084del | NP_001308937.1:p.Pro340Ter | |
| NM_001322009.1:c.931_997del | NP_001308938.1:p.Pro311Ter | |
| NM_001322010.1:c.775_841del | NP_001308939.1:p.Pro259Ter | |
| NM_001322011.1:c.403_469del | NP_001308940.1:p.Pro135Ter | |
| NM_001322012.1:c.403_469del | NP_001308941.1:p.Pro135Ter | |
| NM_001322013.1:c.763_829del | NP_001308942.1:p.Pro255Ter | |
| NM_001322014.1:c.1336_1402del | NP_001308943.1:p.Pro446Ter | |
| NM_001322015.1:c.1027_1093del | NP_001308944.1:p.Pro343Ter | |
| NR_136154.1:n.1423_1489del | ||
| XM_006715744.4:c.403_469del | XP_006715807.1:p.Pro135Ter | |
| XM_017012342.2:c.403_469del | XP_016867831.1:p.Pro135Ter | |
| XM_024446800.1:c.775_841del | XP_024302568.1:p.Pro259Ter | |
| NM_000535.7:c.1336_1402del MANE Select | NP_000526.2:p.Pro446Ter | |
| NM_001322003.2:c.931_997del | NP_001308932.1:p.Pro311Ter | |
| NM_001322004.2:c.931_997del | NP_001308933.1:p.Pro311Ter | |
| NM_001322005.2:c.931_997del | NP_001308934.1:p.Pro311Ter | |
| NM_001322006.2:c.1180_1246del | NP_001308935.1:p.Pro394Ter | |
| NM_001322008.2:c.1018_1084del | NP_001308937.1:p.Pro340Ter | |
| NM_001322009.2:c.931_997del | NP_001308938.1:p.Pro311Ter | |
| NM_001322010.2:c.775_841del | NP_001308939.1:p.Pro259Ter | |
| NM_001322011.2:c.403_469del | NP_001308940.1:p.Pro135Ter | |
| NM_001322012.2:c.403_469del | NP_001308941.1:p.Pro135Ter | |
| NM_001322013.2:c.763_829del | NP_001308942.1:p.Pro255Ter | |
| NM_001322014.2:c.1336_1402del | NP_001308943.1:p.Pro446Ter | |
| NM_001322015.2:c.1027_1093del | NP_001308944.1:p.Pro343Ter | |
| NM_001322007.2:c.1018_1084del | NP_001308936.1:p.Pro340Ter |