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.5986888_5986891delinsCCT , CM000669.2:g.5986888_5986891delinsCCT | GRCh38 |
| NC_000007.13:g.6026519_6026522delinsCCT , CM000669.1:g.6026519_6026522delinsCCT | GRCh37 |
| NC_000007.12:g.5993045_5993048delinsCCT | NCBI36 |
| NG_008466.1:g.27216_27219delinsAGG , LRG_161:g.27216_27219delinsAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1270_*1273delinsAGG | ENSP00000514615.2:n.*1270_*1273delinsAGG | |
| ENST00000699840.2:c.1871_1874delinsAGG | ENSP00000514638.2:p.Leu624Ter | |
| ENST00000699930.2:c.1766_1769delinsAGG | ENSP00000514695.2:p.Leu589Ter | |
| ENST00000406569.8:c.1678+196_1678+199delinsAGG | ENSP00000514464.1:n.1678+196_1678+199delinsAGG | |
| ENST00000644110.2:c.*1468_*1471delinsAGG | ENSP00000496392.2:n.*1468_*1471delinsAGG | |
| ENST00000699752.1:c.1718_1721delinsAGG | ENSP00000514561.1:p.Leu573Ter | |
| ENST00000699753.1:c.*1295_*1298delinsAGG | ENSP00000514562.1:n.*1295_*1298delinsAGG | |
| ENST00000699754.1:c.1676_1679delinsAGG | ENSP00000514563.1:p.Leu559Ter | |
| ENST00000699755.1:c.*1273_*1276delinsAGG | ENSP00000514564.1:n.*1273_*1276delinsAGG | |
| ENST00000699756.1:c.*1461_*1464delinsAGG | ENSP00000514565.1:n.*1461_*1464delinsAGG | |
| ENST00000699757.1:c.*1131_*1134delinsAGG | ENSP00000514566.1:n.*1131_*1134delinsAGG | |
| ENST00000699758.1:c.*1131_*1134delinsAGG | ENSP00000514567.1:n.*1131_*1134delinsAGG | |
| ENST00000699759.1:n.2728_2731delinsAGG | ||
| ENST00000699760.1:c.1556_1559delinsAGG | ENSP00000514568.1:p.Leu519Ter | |
| ENST00000699761.1:c.1469_1472delinsAGG | ENSP00000514569.1:p.Leu490Ter | |
| ENST00000699762.1:c.1301_1304delinsAGG | ENSP00000514570.1:p.Leu434Ter | |
| ENST00000699763.1:c.*964_*967delinsAGG | ENSP00000514571.1:n.*964_*967delinsAGG | |
| ENST00000699764.1:c.*192_*195delinsAGG | ENSP00000514572.1:n.*192_*195delinsAGG | |
| ENST00000699765.1:c.*970_*973delinsAGG | ENSP00000514573.1:n.*970_*973delinsAGG | |
| ENST00000699766.1:c.1874_1877delinsAGG | ENSP00000514574.1:p.Leu625Ter | |
| ENST00000699767.1:c.1874_1877delinsAGG | ENSP00000514575.1:p.Leu625Ter | |
| ENST00000699768.1:c.1874_1877delinsAGG | ENSP00000514576.1:p.Leu625Ter | |
| ENST00000699811.1:c.1469_1472delinsAGG | ENSP00000514614.1:p.Leu490Ter | |
| ENST00000699813.1:n.1987_1990delinsAGG | ||
| ENST00000699814.1:c.1497_1500delinsAGG | ||
| ENST00000699815.1:c.*1405_*1408delinsAGG | ENSP00000514616.1:n.*1405_*1408delinsAGG | |
| ENST00000699816.1:c.*764_*767delinsAGG | ENSP00000514617.1:n.*764_*767delinsAGG | |
| ENST00000699817.1:c.*1468_*1471delinsAGG | ENSP00000514618.1:n.*1468_*1471delinsAGG | |
| ENST00000699818.1:c.1469_1472delinsAGG | ENSP00000514619.1:p.Leu490Ter | |
| ENST00000699819.1:c.*1031_*1034delinsAGG | ENSP00000514620.1:n.*1031_*1034delinsAGG | |
| ENST00000699820.1:c.1144+2909_1144+2912delinsAGG | ENSP00000514621.1:n.1144+2909_1144+2912delinsAGG | |
| ENST00000699821.1:c.1469_1472delinsAGG | ENSP00000514622.1:p.Leu490Ter | |
| ENST00000699822.1:c.*1326_*1329delinsAGG | ENSP00000514623.1:n.*1326_*1329delinsAGG | |
| ENST00000699823.1:c.1469_1472delinsAGG | ENSP00000514624.1:p.Leu490Ter | |
| ENST00000699824.1:c.*1377_*1380delinsAGG | ENSP00000514625.1:n.*1377_*1380delinsAGG | |
| ENST00000699825.1:c.1313_1316delinsAGG | ENSP00000514626.1:p.Leu438Ter | |
| ENST00000699826.1:c.*1273_*1276delinsAGG | ENSP00000514627.1:n.*1273_*1276delinsAGG | |
| ENST00000699827.1:c.1706_1709delinsAGG | ENSP00000514628.1:p.Leu569Ter | |
| ENST00000699828.1:c.*964_*967delinsAGG | ENSP00000514629.1:n.*964_*967delinsAGG | |
| ENST00000699833.1:n.3646_3649delinsAGG | ||
| ENST00000699837.1:c.1469_1472delinsAGG | ENSP00000514635.1:p.Leu490Ter | |
| ENST00000699838.1:c.*1774_*1777delinsAGG | ENSP00000514636.1:n.*1774_*1777delinsAGG | |
| ENST00000699839.1:c.2060_2063delinsAGG | ENSP00000514637.1:p.Leu687Ter | |
| ENST00000699916.1:c.*1131_*1134delinsAGG | ENSP00000514684.1:n.*1131_*1134delinsAGG | |
| ENST00000699917.1:c.*1323_*1326delinsAGG | ENSP00000514685.1:n.*1323_*1326delinsAGG | |
| ENST00000699918.1:c.*1375_*1378delinsAGG | ENSP00000514686.1:n.*1375_*1378delinsAGG | |
| ENST00000699919.1:c.*1461_*1464delinsAGG | ENSP00000514687.1:n.*1461_*1464delinsAGG | |
| ENST00000699920.1:c.*1510_*1513delinsAGG | ENSP00000514688.1:n.*1510_*1513delinsAGG | |
| ENST00000699928.1:c.989-3900_989-3897delinsAGG | ENSP00000514693.1:n.989-3900_989-3897delinsAGG | |
| ENST00000699951.1:c.*970_*973delinsAGG | ENSP00000514706.1:n.*970_*973delinsAGG | |
| ENST00000699952.1:c.803+10435_803+10438delinsAGG | ENSP00000514707.1:n.803+10435_803+10438delinsAGG | |
| ENST00000265849.12:c.1874_1877delinsAGG MANE Select | ENSP00000265849.7:p.Leu625Ter | |
| ENST00000642292.1:c.1469_1472delinsAGG | ENSP00000495524.1:p.Leu490Ter | |
| ENST00000642456.1:c.1469_1472delinsAGG | ENSP00000493814.1:p.Leu490Ter | |
| ENST00000643595.1:c.*1273_*1276delinsAGG | ENSP00000494497.1:n.*1273_*1276delinsAGG | |
| ENST00000644110.1:c.1556_1559delinsAGG | ENSP00000496392.1:p.Leu519Ter | |
| ENST00000265849.11:c.1874_1877delinsAGG | ENSP00000265849.7:p.Leu625Ter | |
| ENST00000382321.5:c.804-3900_804-3897delinsAGG | ENSP00000371758.4:n.804-3900_804-3897delinsAGG | |
| ENST00000406569.7:n.1678+196_1678+199delinsAGG | ||
| ENST00000441476.6:c.1556_1559delinsAGG | ENSP00000392843.2:p.Leu519Ter | |
| ENST00000469652.1:n.63-3986_63-3983delinsAGG | ||
| NM_000535.5:c.1874_1877delinsAGG , LRG_161t1:c.1874_1877delinsAGG | NP_000526.1:p.Leu625Ter | |
| NR_003085.2:n.1956_1959delinsAGG | ||
| XM_006715742.2:c.1868_1871delinsAGG | XP_006715805.1:p.Leu623Ter | |
| XM_006715744.2:c.941_944delinsAGG | XP_006715807.1:p.Leu314Ter | |
| XM_011515427.1:c.1919_1922delinsAGG | XP_011513729.1:p.Leu640Ter | |
| XM_011515428.1:c.1763_1766delinsAGG | XP_011513730.1:p.Leu588Ter | |
| XM_011515429.1:c.1556_1559delinsAGG | XP_011513731.1:p.Leu519Ter | |
| XM_011515430.1:c.1556_1559delinsAGG | XP_011513732.1:p.Leu519Ter | |
| NM_000535.6:c.1874_1877delinsAGG | NP_000526.2:p.Leu625Ter | |
| NM_001322003.1:c.1469_1472delinsAGG | NP_001308932.1:p.Leu490Ter | |
| NM_001322004.1:c.1469_1472delinsAGG | NP_001308933.1:p.Leu490Ter | |
| NM_001322005.1:c.1469_1472delinsAGG | NP_001308934.1:p.Leu490Ter | |
| NM_001322006.1:c.1718_1721delinsAGG | NP_001308935.1:p.Leu573Ter | |
| NM_001322007.1:c.1556_1559delinsAGG | NP_001308936.1:p.Leu519Ter | |
| NM_001322008.1:c.1556_1559delinsAGG | NP_001308937.1:p.Leu519Ter | |
| NM_001322009.1:c.1469_1472delinsAGG | NP_001308938.1:p.Leu490Ter | |
| NM_001322010.1:c.1313_1316delinsAGG | NP_001308939.1:p.Leu438Ter | |
| NM_001322011.1:c.941_944delinsAGG | NP_001308940.1:p.Leu314Ter | |
| NM_001322012.1:c.941_944delinsAGG | NP_001308941.1:p.Leu314Ter | |
| NM_001322013.1:c.1301_1304delinsAGG | NP_001308942.1:p.Leu434Ter | |
| NM_001322014.1:c.1874_1877delinsAGG | NP_001308943.1:p.Leu625Ter | |
| NM_001322015.1:c.1565_1568delinsAGG | NP_001308944.1:p.Leu522Ter | |
| NR_136154.1:n.1961_1964delinsAGG | ||
| XM_006715744.4:c.941_944delinsAGG | XP_006715807.1:p.Leu314Ter | |
| XM_017012342.2:c.941_944delinsAGG | XP_016867831.1:p.Leu314Ter | |
| XM_024446800.1:c.1313_1316delinsAGG | XP_024302568.1:p.Leu438Ter | |
| NM_000535.7:c.1874_1877delinsAGG MANE Select | NP_000526.2:p.Leu625Ter | |
| NM_001322003.2:c.1469_1472delinsAGG | NP_001308932.1:p.Leu490Ter | |
| NM_001322004.2:c.1469_1472delinsAGG | NP_001308933.1:p.Leu490Ter | |
| NM_001322005.2:c.1469_1472delinsAGG | NP_001308934.1:p.Leu490Ter | |
| NM_001322006.2:c.1718_1721delinsAGG | NP_001308935.1:p.Leu573Ter | |
| NM_001322008.2:c.1556_1559delinsAGG | NP_001308937.1:p.Leu519Ter | |
| NM_001322009.2:c.1469_1472delinsAGG | NP_001308938.1:p.Leu490Ter | |
| NM_001322010.2:c.1313_1316delinsAGG | NP_001308939.1:p.Leu438Ter | |
| NM_001322011.2:c.941_944delinsAGG | NP_001308940.1:p.Leu314Ter | |
| NM_001322012.2:c.941_944delinsAGG | NP_001308941.1:p.Leu314Ter | |
| NM_001322013.2:c.1301_1304delinsAGG | NP_001308942.1:p.Leu434Ter | |
| NM_001322014.2:c.1874_1877delinsAGG | NP_001308943.1:p.Leu625Ter | |
| NM_001322015.2:c.1565_1568delinsAGG | NP_001308944.1:p.Leu522Ter | |
| NM_001322007.2:c.1556_1559delinsAGG | NP_001308936.1:p.Leu519Ter |