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.5982827_5982839dup , CM000669.2:g.5982827_5982839dup | GRCh38 |
| NC_000007.13:g.6022458_6022470dup , CM000669.1:g.6022458_6022470dup | GRCh37 |
| NC_000007.12:g.5988984_5988996dup | NCBI36 |
| NG_008466.1:g.31268_31280dup , LRG_161:g.31268_31280dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1555_*1567dup | ENSP00000514615.2:n.*1555_*1567dup | |
| ENST00000699840.2:c.2156_2168dup | ENSP00000514638.2:p.Ile723MetfsTer16 | |
| ENST00000699930.2:c.2051_2063dup | ENSP00000514695.2:p.Ile688MetfsTer16 | |
| ENST00000406569.8:c.1678+4248_1678+4260dup | ENSP00000514464.1:n.1678+4248_1678+4260dup | |
| ENST00000644110.2:c.*1753_*1765dup | ENSP00000496392.2:n.*1753_*1765dup | |
| ENST00000699752.1:c.2003_2015dup | ENSP00000514561.1:p.Ile672MetfsTer16 | |
| ENST00000699753.1:c.*1580_*1592dup | ENSP00000514562.1:n.*1580_*1592dup | |
| ENST00000699754.1:c.1961_1973dup | ENSP00000514563.1:p.Ile658MetfsTer16 | |
| ENST00000699755.1:c.*1558_*1570dup | ENSP00000514564.1:n.*1558_*1570dup | |
| ENST00000699756.1:c.*1746_*1758dup | ENSP00000514565.1:n.*1746_*1758dup | |
| ENST00000699757.1:c.*1416_*1428dup | ENSP00000514566.1:n.*1416_*1428dup | |
| ENST00000699758.1:c.*1416_*1428dup | ENSP00000514567.1:n.*1416_*1428dup | |
| ENST00000699759.1:n.3013_3025dup | ||
| ENST00000699760.1:c.1841_1853dup | ENSP00000514568.1:p.Ile618MetfsTer16 | |
| ENST00000699761.1:c.1754_1766dup | ENSP00000514569.1:p.Ile589MetfsTer16 | |
| ENST00000699762.1:c.1586_1598dup | ENSP00000514570.1:p.Ile533MetfsTer16 | |
| ENST00000699763.1:c.*1249_*1261dup | ENSP00000514571.1:n.*1249_*1261dup | |
| ENST00000699764.1:c.*477_*489dup | ENSP00000514572.1:n.*477_*489dup | |
| ENST00000699765.1:c.*1255_*1267dup | ENSP00000514573.1:n.*1255_*1267dup | |
| ENST00000699766.1:c.2159_2171dup | ENSP00000514574.1:p.Ile724MetfsTer16 | |
| ENST00000699767.1:c.2159_2171dup | ENSP00000514575.1:p.Ile724MetfsTer16 | |
| ENST00000699768.1:c.2159_2171dup | ENSP00000514576.1:p.Ile724MetfsTer7 | |
| ENST00000699811.1:c.1754_1766dup | ENSP00000514614.1:p.Ile589MetfsTer16 | |
| ENST00000699813.1:n.2272_2284dup | ||
| ENST00000699814.1:c.1782_1794dup | ||
| ENST00000699815.1:c.*1690_*1702dup | ENSP00000514616.1:n.*1690_*1702dup | |
| ENST00000699816.1:c.*1049_*1061dup | ENSP00000514617.1:n.*1049_*1061dup | |
| ENST00000699817.1:c.*1753_*1765dup | ENSP00000514618.1:n.*1753_*1765dup | |
| ENST00000699818.1:c.1754_1766dup | ENSP00000514619.1:p.Ile589MetfsTer16 | |
| ENST00000699819.1:c.*1316_*1328dup | ENSP00000514620.1:n.*1316_*1328dup | |
| ENST00000699820.1:c.*97_*109dup | ENSP00000514621.1:n.*97_*109dup | |
| ENST00000699821.1:c.1754_1766dup | ENSP00000514622.1:p.Ile589MetfsTer16 | |
| ENST00000699822.1:c.*1611_*1623dup | ENSP00000514623.1:n.*1611_*1623dup | |
| ENST00000699823.1:c.1754_1766dup | ENSP00000514624.1:p.Ile589MetfsTer16 | |
| ENST00000699824.1:c.*1662_*1674dup | ENSP00000514625.1:n.*1662_*1674dup | |
| ENST00000699825.1:c.1598_1610dup | ENSP00000514626.1:p.Ile537MetfsTer16 | |
| ENST00000699826.1:c.*1558_*1570dup | ENSP00000514627.1:n.*1558_*1570dup | |
| ENST00000699827.1:c.1991_2003dup | ENSP00000514628.1:p.Ile668MetfsTer16 | |
| ENST00000699828.1:c.*1249_*1261dup | ENSP00000514629.1:n.*1249_*1261dup | |
| ENST00000699833.1:n.3931_3943dup | ||
| ENST00000699837.1:c.1754_1766dup | ENSP00000514635.1:p.Ile589MetfsTer16 | |
| ENST00000699838.1:c.*2059_*2071dup | ENSP00000514636.1:n.*2059_*2071dup | |
| ENST00000699839.1:c.2345_2357dup | ENSP00000514637.1:p.Ile786MetfsTer16 | |
| ENST00000699916.1:c.*1416_*1428dup | ENSP00000514684.1:n.*1416_*1428dup | |
| ENST00000699917.1:c.*1608_*1620dup | ENSP00000514685.1:n.*1608_*1620dup | |
| ENST00000699918.1:c.*1660_*1672dup | ENSP00000514686.1:n.*1660_*1672dup | |
| ENST00000699919.1:c.*1746_*1758dup | ENSP00000514687.1:n.*1746_*1758dup | |
| ENST00000699920.1:c.*1795_*1807dup | ENSP00000514688.1:n.*1795_*1807dup | |
| ENST00000699928.1:c.*97_*109dup | ENSP00000514693.1:n.*97_*109dup | |
| ENST00000699951.1:c.*1255_*1267dup | ENSP00000514706.1:n.*1255_*1267dup | |
| ENST00000699952.1:c.804-9297_804-9285dup | ENSP00000514707.1:n.804-9297_804-9285dup | |
| ENST00000265849.12:c.2159_2171dup MANE Select | ENSP00000265849.7:p.Ile724MetfsTer16 | |
| ENST00000642292.1:c.1754_1766dup | ENSP00000495524.1:p.Ile589MetfsTer16 | |
| ENST00000642456.1:c.1754_1766dup | ENSP00000493814.1:p.Ile589MetfsTer16 | |
| ENST00000643595.1:c.*1558_*1570dup | ENSP00000494497.1:n.*1558_*1570dup | |
| ENST00000644110.1:c.1841_1853dup | ENSP00000496392.1:p.Ile618MetfsTer16 | |
| ENST00000265849.11:c.2159_2171dup | ENSP00000265849.7:p.Ile724MetfsTer16 | |
| ENST00000382321.5:c.956_968dup | ENSP00000371758.4:p.Ile323MetfsTer16 | |
| ENST00000406569.7:n.1678+4248_1678+4260dup | ||
| ENST00000441476.6:c.1841_1853dup | ENSP00000392843.2:p.Ile618MetfsTer16 | |
| NM_000535.5:c.2159_2171dup , LRG_161t1:c.2159_2171dup | NP_000526.1:p.Ile724MetfsTer16 | |
| NR_003085.2:n.2241_2253dup | ||
| XM_006715742.2:c.2153_2165dup | XP_006715805.1:p.Ile722MetfsTer16 | |
| XM_006715744.2:c.1226_1238dup | XP_006715807.1:p.Ile413MetfsTer16 | |
| XM_011515427.1:c.2204_2216dup | XP_011513729.1:p.Ile739MetfsTer16 | |
| XM_011515428.1:c.2048_2060dup | XP_011513730.1:p.Ile687MetfsTer16 | |
| XM_011515429.1:c.1841_1853dup | XP_011513731.1:p.Ile618MetfsTer16 | |
| XM_011515430.1:c.1841_1853dup | XP_011513732.1:p.Ile618MetfsTer16 | |
| NM_000535.6:c.2159_2171dup | NP_000526.2:p.Ile724MetfsTer16 | |
| NM_001322003.1:c.1754_1766dup | NP_001308932.1:p.Ile589MetfsTer16 | |
| NM_001322004.1:c.1754_1766dup | NP_001308933.1:p.Ile589MetfsTer16 | |
| NM_001322005.1:c.1754_1766dup | NP_001308934.1:p.Ile589MetfsTer16 | |
| NM_001322006.1:c.2003_2015dup | NP_001308935.1:p.Ile672MetfsTer16 | |
| NM_001322007.1:c.1841_1853dup | NP_001308936.1:p.Ile618MetfsTer16 | |
| NM_001322008.1:c.1841_1853dup | NP_001308937.1:p.Ile618MetfsTer16 | |
| NM_001322009.1:c.1754_1766dup | NP_001308938.1:p.Ile589MetfsTer16 | |
| NM_001322010.1:c.1598_1610dup | NP_001308939.1:p.Ile537MetfsTer16 | |
| NM_001322011.1:c.1226_1238dup | NP_001308940.1:p.Ile413MetfsTer16 | |
| NM_001322012.1:c.1226_1238dup | NP_001308941.1:p.Ile413MetfsTer16 | |
| NM_001322013.1:c.1586_1598dup | NP_001308942.1:p.Ile533MetfsTer16 | |
| NM_001322014.1:c.2159_2171dup | NP_001308943.1:p.Ile724MetfsTer16 | |
| NM_001322015.1:c.1850_1862dup | NP_001308944.1:p.Ile621MetfsTer16 | |
| NR_136154.1:n.2246_2258dup | ||
| XM_006715744.4:c.1226_1238dup | XP_006715807.1:p.Ile413MetfsTer16 | |
| XM_017012342.2:c.1226_1238dup | XP_016867831.1:p.Ile413MetfsTer16 | |
| XM_024446800.1:c.1598_1610dup | XP_024302568.1:p.Ile537MetfsTer16 | |
| NM_000535.7:c.2159_2171dup MANE Select | NP_000526.2:p.Ile724MetfsTer16 | |
| NM_001322003.2:c.1754_1766dup | NP_001308932.1:p.Ile589MetfsTer16 | |
| NM_001322004.2:c.1754_1766dup | NP_001308933.1:p.Ile589MetfsTer16 | |
| NM_001322005.2:c.1754_1766dup | NP_001308934.1:p.Ile589MetfsTer16 | |
| NM_001322006.2:c.2003_2015dup | NP_001308935.1:p.Ile672MetfsTer16 | |
| NM_001322008.2:c.1841_1853dup | NP_001308937.1:p.Ile618MetfsTer16 | |
| NM_001322009.2:c.1754_1766dup | NP_001308938.1:p.Ile589MetfsTer16 | |
| NM_001322010.2:c.1598_1610dup | NP_001308939.1:p.Ile537MetfsTer16 | |
| NM_001322011.2:c.1226_1238dup | NP_001308940.1:p.Ile413MetfsTer16 | |
| NM_001322012.2:c.1226_1238dup | NP_001308941.1:p.Ile413MetfsTer16 | |
| NM_001322013.2:c.1586_1598dup | NP_001308942.1:p.Ile533MetfsTer16 | |
| NM_001322014.2:c.2159_2171dup | NP_001308943.1:p.Ile724MetfsTer16 | |
| NM_001322015.2:c.1850_1862dup | NP_001308944.1:p.Ile621MetfsTer16 | |
| NM_001322007.2:c.1841_1853dup | NP_001308936.1:p.Ile618MetfsTer16 |