SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5986810del , CM000669.2:g.5986810del | GRCh38 |
| NC_000007.13:g.6026441del , CM000669.1:g.6026441del | GRCh37 |
| NC_000007.12:g.5992967del | NCBI36 |
| NG_008466.1:g.27299del , LRG_161:g.27299del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1353del | ENSP00000514615.2:n.*1353del | |
| ENST00000699840.2:c.1954del | ENSP00000514638.2:p.Cys652ValfsTer12 | |
| ENST00000699930.2:c.1849del | ENSP00000514695.2:p.Cys617ValfsTer12 | |
| ENST00000406569.8:c.1678+279del | ENSP00000514464.1:n.1678+279del | |
| ENST00000644110.2:c.*1551del | ENSP00000496392.2:n.*1551del | |
| ENST00000699752.1:c.1801del | ENSP00000514561.1:p.Cys601ValfsTer12 | |
| ENST00000699753.1:c.*1378del | ENSP00000514562.1:n.*1378del | |
| ENST00000699754.1:c.1759del | ENSP00000514563.1:p.Cys587ValfsTer12 | |
| ENST00000699755.1:c.*1356del | ENSP00000514564.1:n.*1356del | |
| ENST00000699756.1:c.*1544del | ENSP00000514565.1:n.*1544del | |
| ENST00000699757.1:c.*1214del | ENSP00000514566.1:n.*1214del | |
| ENST00000699758.1:c.*1214del | ENSP00000514567.1:n.*1214del | |
| ENST00000699759.1:n.2811del | ||
| ENST00000699760.1:c.1639del | ENSP00000514568.1:p.Cys547ValfsTer12 | |
| ENST00000699761.1:c.1552del | ENSP00000514569.1:p.Cys518ValfsTer12 | |
| ENST00000699762.1:c.1384del | ENSP00000514570.1:p.Cys462ValfsTer12 | |
| ENST00000699763.1:c.*1047del | ENSP00000514571.1:n.*1047del | |
| ENST00000699764.1:c.*275del | ENSP00000514572.1:n.*275del | |
| ENST00000699765.1:c.*1053del | ENSP00000514573.1:n.*1053del | |
| ENST00000699766.1:c.1957del | ENSP00000514574.1:p.Cys653ValfsTer12 | |
| ENST00000699767.1:c.1957del | ENSP00000514575.1:p.Cys653ValfsTer12 | |
| ENST00000699768.1:c.1957del | ENSP00000514576.1:p.Cys653ValfsTer12 | |
| ENST00000699811.1:c.1552del | ENSP00000514614.1:p.Cys518ValfsTer12 | |
| ENST00000699813.1:n.2070del | ||
| ENST00000699814.1:c.1580del | ||
| ENST00000699815.1:c.*1488del | ENSP00000514616.1:n.*1488del | |
| ENST00000699816.1:c.*847del | ENSP00000514617.1:n.*847del | |
| ENST00000699817.1:c.*1551del | ENSP00000514618.1:n.*1551del | |
| ENST00000699818.1:c.1552del | ENSP00000514619.1:p.Cys518ValfsTer12 | |
| ENST00000699819.1:c.*1114del | ENSP00000514620.1:n.*1114del | |
| ENST00000699820.1:c.1144+2992del | ENSP00000514621.1:n.1144+2992del | |
| ENST00000699821.1:c.1552del | ENSP00000514622.1:p.Cys518ValfsTer12 | |
| ENST00000699822.1:c.*1409del | ENSP00000514623.1:n.*1409del | |
| ENST00000699823.1:c.1552del | ENSP00000514624.1:p.Cys518ValfsTer12 | |
| ENST00000699824.1:c.*1460del | ENSP00000514625.1:n.*1460del | |
| ENST00000699825.1:c.1396del | ENSP00000514626.1:p.Cys466ValfsTer12 | |
| ENST00000699826.1:c.*1356del | ENSP00000514627.1:n.*1356del | |
| ENST00000699827.1:c.1789del | ENSP00000514628.1:p.Cys597ValfsTer12 | |
| ENST00000699828.1:c.*1047del | ENSP00000514629.1:n.*1047del | |
| ENST00000699833.1:n.3729del | ||
| ENST00000699837.1:c.1552del | ENSP00000514635.1:p.Cys518ValfsTer12 | |
| ENST00000699838.1:c.*1857del | ENSP00000514636.1:n.*1857del | |
| ENST00000699839.1:c.2143del | ENSP00000514637.1:p.Cys715ValfsTer12 | |
| ENST00000699916.1:c.*1214del | ENSP00000514684.1:n.*1214del | |
| ENST00000699917.1:c.*1406del | ENSP00000514685.1:n.*1406del | |
| ENST00000699918.1:c.*1458del | ENSP00000514686.1:n.*1458del | |
| ENST00000699919.1:c.*1544del | ENSP00000514687.1:n.*1544del | |
| ENST00000699920.1:c.*1593del | ENSP00000514688.1:n.*1593del | |
| ENST00000699928.1:c.989-3817del | ENSP00000514693.1:n.989-3817del | |
| ENST00000699951.1:c.*1053del | ENSP00000514706.1:n.*1053del | |
| ENST00000699952.1:c.803+10518del | ENSP00000514707.1:n.803+10518del | |
| ENST00000265849.12:c.1957del MANE Select | ENSP00000265849.7:p.Cys653ValfsTer12 | |
| ENST00000642292.1:c.1552del | ENSP00000495524.1:p.Cys518ValfsTer12 | |
| ENST00000642456.1:c.1552del | ENSP00000493814.1:p.Cys518ValfsTer12 | |
| ENST00000643595.1:c.*1356del | ENSP00000494497.1:n.*1356del | |
| ENST00000644110.1:c.1639del | ENSP00000496392.1:p.Cys547ValfsTer12 | |
| ENST00000265849.11:c.1957del | ENSP00000265849.7:p.Cys653ValfsTer12 | |
| ENST00000382321.5:c.804-3817del | ENSP00000371758.4:n.804-3817del | |
| ENST00000406569.7:n.1678+279del | ||
| ENST00000441476.6:c.1639del | ENSP00000392843.2:p.Cys547ValfsTer12 | |
| ENST00000469652.1:n.63-3903del | ||
| NM_000535.5:c.1957del , LRG_161t1:c.1957del | NP_000526.1:p.Cys653ValfsTer12 | |
| NR_003085.2:n.2039del | ||
| XM_006715742.2:c.1951del | XP_006715805.1:p.Cys651ValfsTer12 | |
| XM_006715744.2:c.1024del | XP_006715807.1:p.Cys342ValfsTer12 | |
| XM_011515427.1:c.2002del | XP_011513729.1:p.Cys668ValfsTer12 | |
| XM_011515428.1:c.1846del | XP_011513730.1:p.Cys616ValfsTer12 | |
| XM_011515429.1:c.1639del | XP_011513731.1:p.Cys547ValfsTer12 | |
| XM_011515430.1:c.1639del | XP_011513732.1:p.Cys547ValfsTer12 | |
| NM_000535.6:c.1957del | NP_000526.2:p.Cys653ValfsTer12 | |
| NM_001322003.1:c.1552del | NP_001308932.1:p.Cys518ValfsTer12 | |
| NM_001322004.1:c.1552del | NP_001308933.1:p.Cys518ValfsTer12 | |
| NM_001322005.1:c.1552del | NP_001308934.1:p.Cys518ValfsTer12 | |
| NM_001322006.1:c.1801del | NP_001308935.1:p.Cys601ValfsTer12 | |
| NM_001322007.1:c.1639del | NP_001308936.1:p.Cys547ValfsTer12 | |
| NM_001322008.1:c.1639del | NP_001308937.1:p.Cys547ValfsTer12 | |
| NM_001322009.1:c.1552del | NP_001308938.1:p.Cys518ValfsTer12 | |
| NM_001322010.1:c.1396del | NP_001308939.1:p.Cys466ValfsTer12 | |
| NM_001322011.1:c.1024del | NP_001308940.1:p.Cys342ValfsTer12 | |
| NM_001322012.1:c.1024del | NP_001308941.1:p.Cys342ValfsTer12 | |
| NM_001322013.1:c.1384del | NP_001308942.1:p.Cys462ValfsTer12 | |
| NM_001322014.1:c.1957del | NP_001308943.1:p.Cys653ValfsTer12 | |
| NM_001322015.1:c.1648del | NP_001308944.1:p.Cys550ValfsTer12 | |
| NR_136154.1:n.2044del | ||
| XM_006715744.4:c.1024del | XP_006715807.1:p.Cys342ValfsTer12 | |
| XM_017012342.2:c.1024del | XP_016867831.1:p.Cys342ValfsTer12 | |
| XM_024446800.1:c.1396del | XP_024302568.1:p.Cys466ValfsTer12 | |
| NM_000535.7:c.1957del MANE Select | NP_000526.2:p.Cys653ValfsTer12 | |
| NM_001322003.2:c.1552del | NP_001308932.1:p.Cys518ValfsTer12 | |
| NM_001322004.2:c.1552del | NP_001308933.1:p.Cys518ValfsTer12 | |
| NM_001322005.2:c.1552del | NP_001308934.1:p.Cys518ValfsTer12 | |
| NM_001322006.2:c.1801del | NP_001308935.1:p.Cys601ValfsTer12 | |
| NM_001322008.2:c.1639del | NP_001308937.1:p.Cys547ValfsTer12 | |
| NM_001322009.2:c.1552del | NP_001308938.1:p.Cys518ValfsTer12 | |
| NM_001322010.2:c.1396del | NP_001308939.1:p.Cys466ValfsTer12 | |
| NM_001322011.2:c.1024del | NP_001308940.1:p.Cys342ValfsTer12 | |
| NM_001322012.2:c.1024del | NP_001308941.1:p.Cys342ValfsTer12 | |
| NM_001322013.2:c.1384del | NP_001308942.1:p.Cys462ValfsTer12 | |
| NM_001322014.2:c.1957del | NP_001308943.1:p.Cys653ValfsTer12 | |
| NM_001322015.2:c.1648del | NP_001308944.1:p.Cys550ValfsTer12 | |
| NM_001322007.2:c.1639del | NP_001308936.1:p.Cys547ValfsTer12 |