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.5977343_5977344insTGTG , CM000669.2:g.5977343_5977344insTGTG | GRCh38 |
| NC_000007.13:g.6016974_6016975insTGTG , CM000669.1:g.6016974_6016975insTGTG | GRCh37 |
| NC_000007.12:g.5983500_5983501insTGTG | NCBI36 |
| NG_008466.1:g.36763_36764insCACA , LRG_161:g.36763_36764insCACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1841+244_*1841+245insCACA | ENSP00000514615.2:n.*1841+244_*1841+245insCACA | |
| ENST00000699840.2:c.2442+244_2442+245insCACA | ENSP00000514638.2:n.2442+244_2442+245insCACA | |
| ENST00000699930.2:c.2337+244_2337+245insCACA | ENSP00000514695.2:n.2337+244_2337+245insCACA | |
| ENST00000406569.8:c.1805+244_1805+245insCACA | ENSP00000514464.1:n.1805+244_1805+245insCACA | |
| ENST00000644110.2:c.*2039+244_*2039+245insCACA | ENSP00000496392.2:n.*2039+244_*2039+245insCACA | |
| ENST00000699752.1:c.2289+244_2289+245insCACA | ENSP00000514561.1:n.2289+244_2289+245insCACA | |
| ENST00000699753.1:c.*1866+244_*1866+245insCACA | ENSP00000514562.1:n.*1866+244_*1866+245insCACA | |
| ENST00000699754.1:c.2247+244_2247+245insCACA | ENSP00000514563.1:n.2247+244_2247+245insCACA | |
| ENST00000699755.1:c.*1844+244_*1844+245insCACA | ENSP00000514564.1:n.*1844+244_*1844+245insCACA | |
| ENST00000699756.1:c.*2032+244_*2032+245insCACA | ENSP00000514565.1:n.*2032+244_*2032+245insCACA | |
| ENST00000699757.1:c.*1702+244_*1702+245insCACA | ENSP00000514566.1:n.*1702+244_*1702+245insCACA | |
| ENST00000699758.1:c.*1702+244_*1702+245insCACA | ENSP00000514567.1:n.*1702+244_*1702+245insCACA | |
| ENST00000699759.1:n.3299+244_3299+245insCACA | ||
| ENST00000699760.1:c.2127+244_2127+245insCACA | ENSP00000514568.1:n.2127+244_2127+245insCACA | |
| ENST00000699761.1:c.2040+244_2040+245insCACA | ENSP00000514569.1:n.2040+244_2040+245insCACA | |
| ENST00000699762.1:c.1872+244_1872+245insCACA | ENSP00000514570.1:n.1872+244_1872+245insCACA | |
| ENST00000699763.1:c.*1535+244_*1535+245insCACA | ENSP00000514571.1:n.*1535+244_*1535+245insCACA | |
| ENST00000699764.1:c.*763+244_*763+245insCACA | ENSP00000514572.1:n.*763+244_*763+245insCACA | |
| ENST00000699765.1:c.*1440+244_*1440+245insCACA | ENSP00000514573.1:n.*1440+244_*1440+245insCACA | |
| ENST00000699766.1:c.2478+244_2478+245insCACA | ENSP00000514574.1:n.2478+244_2478+245insCACA | |
| ENST00000699767.1:c.*86+244_*86+245insCACA | ENSP00000514575.1:n.*86+244_*86+245insCACA | |
| ENST00000699768.1:c.2301+244_2301+245insCACA | ENSP00000514576.1:n.2301+244_2301+245insCACA | |
| ENST00000699811.1:c.2040+244_2040+245insCACA | ENSP00000514614.1:n.2040+244_2040+245insCACA | |
| ENST00000699813.1:n.2558+244_2558+245insCACA | ||
| ENST00000699814.1:c.2068+244_2068+245insCACA | ||
| ENST00000699815.1:c.*1976+244_*1976+245insCACA | ENSP00000514616.1:n.*1976+244_*1976+245insCACA | |
| ENST00000699816.1:c.*1335+244_*1335+245insCACA | ENSP00000514617.1:n.*1335+244_*1335+245insCACA | |
| ENST00000699817.1:c.*2039+244_*2039+245insCACA | ENSP00000514618.1:n.*2039+244_*2039+245insCACA | |
| ENST00000699818.1:c.2040+244_2040+245insCACA | ENSP00000514619.1:n.2040+244_2040+245insCACA | |
| ENST00000699819.1:c.*1602+244_*1602+245insCACA | ENSP00000514620.1:n.*1602+244_*1602+245insCACA | |
| ENST00000699820.1:c.*383+244_*383+245insCACA | ENSP00000514621.1:n.*383+244_*383+245insCACA | |
| ENST00000699821.1:c.2073+244_2073+245insCACA | ENSP00000514622.1:n.2073+244_2073+245insCACA | |
| ENST00000699822.1:c.*1897+244_*1897+245insCACA | ENSP00000514623.1:n.*1897+244_*1897+245insCACA | |
| ENST00000699823.1:c.2040+244_2040+245insCACA | ENSP00000514624.1:n.2040+244_2040+245insCACA | |
| ENST00000699824.1:c.*1948+244_*1948+245insCACA | ENSP00000514625.1:n.*1948+244_*1948+245insCACA | |
| ENST00000699825.1:c.1884+244_1884+245insCACA | ENSP00000514626.1:n.1884+244_1884+245insCACA | |
| ENST00000699826.1:c.*1844+244_*1844+245insCACA | ENSP00000514627.1:n.*1844+244_*1844+245insCACA | |
| ENST00000699827.1:c.2277+244_2277+245insCACA | ENSP00000514628.1:n.2277+244_2277+245insCACA | |
| ENST00000699828.1:c.*1535+244_*1535+245insCACA | ENSP00000514629.1:n.*1535+244_*1535+245insCACA | |
| ENST00000699833.1:n.4217+244_4217+245insCACA | ||
| ENST00000699837.1:c.2040+244_2040+245insCACA | ENSP00000514635.1:n.2040+244_2040+245insCACA | |
| ENST00000699838.1:c.*2345+244_*2345+245insCACA | ENSP00000514636.1:n.*2345+244_*2345+245insCACA | |
| ENST00000699839.1:c.2631+244_2631+245insCACA | ENSP00000514637.1:n.2631+244_2631+245insCACA | |
| ENST00000699916.1:c.*1702+244_*1702+245insCACA | ENSP00000514684.1:n.*1702+244_*1702+245insCACA | |
| ENST00000699917.1:c.*1894+244_*1894+245insCACA | ENSP00000514685.1:n.*1894+244_*1894+245insCACA | |
| ENST00000699918.1:c.*1946+244_*1946+245insCACA | ENSP00000514686.1:n.*1946+244_*1946+245insCACA | |
| ENST00000699919.1:c.*2032+244_*2032+245insCACA | ENSP00000514687.1:n.*2032+244_*2032+245insCACA | |
| ENST00000699920.1:c.*2081+244_*2081+245insCACA | ENSP00000514688.1:n.*2081+244_*2081+245insCACA | |
| ENST00000699928.1:c.*383+244_*383+245insCACA | ENSP00000514693.1:n.*383+244_*383+245insCACA | |
| ENST00000699951.1:c.*1498+244_*1498+245insCACA | ENSP00000514706.1:n.*1498+244_*1498+245insCACA | |
| ENST00000699952.1:c.804-3802_804-3801insCACA | ENSP00000514707.1:n.804-3802_804-3801insCACA | |
| ENST00000265849.12:c.2445+244_2445+245insCACA MANE Select | ENSP00000265849.7:n.2445+244_2445+245insCACA | |
| ENST00000642292.1:c.2040+244_2040+245insCACA | ENSP00000495524.1:n.2040+244_2040+245insCACA | |
| ENST00000642456.1:c.2040+244_2040+245insCACA | ENSP00000493814.1:n.2040+244_2040+245insCACA | |
| ENST00000643595.1:c.*1844+244_*1844+245insCACA | ENSP00000494497.1:n.*1844+244_*1844+245insCACA | |
| ENST00000644110.1:c.2127+244_2127+245insCACA | ENSP00000496392.1:n.2127+244_2127+245insCACA | |
| ENST00000265849.11:c.2445+244_2445+245insCACA | ENSP00000265849.7:n.2445+244_2445+245insCACA | |
| ENST00000382321.5:c.1242+244_1242+245insCACA | ENSP00000371758.4:n.1242+244_1242+245insCACA | |
| ENST00000441476.6:c.2127+244_2127+245insCACA | ENSP00000392843.2:n.2127+244_2127+245insCACA | |
| NM_000535.5:c.2445+244_2445+245insCACA , LRG_161t1:c.2445+244_2445+245insCACA | NP_000526.1:n.2445+244_2445+245insCACA | |
| NR_003085.2:n.2527+244_2527+245insCACA | ||
| XM_006715742.2:c.2439+244_2439+245insCACA | XP_006715805.1:n.2439+244_2439+245insCACA | |
| XM_006715744.2:c.1512+244_1512+245insCACA | XP_006715807.1:n.1512+244_1512+245insCACA | |
| XM_011515427.1:c.2490+244_2490+245insCACA | XP_011513729.1:n.2490+244_2490+245insCACA | |
| XM_011515428.1:c.2334+244_2334+245insCACA | XP_011513730.1:n.2334+244_2334+245insCACA | |
| XM_011515429.1:c.2127+244_2127+245insCACA | XP_011513731.1:n.2127+244_2127+245insCACA | |
| XM_011515430.1:c.2127+244_2127+245insCACA | XP_011513732.1:n.2127+244_2127+245insCACA | |
| NM_000535.6:c.2445+244_2445+245insCACA | NP_000526.2:n.2445+244_2445+245insCACA | |
| NM_001322003.1:c.2040+244_2040+245insCACA | NP_001308932.1:n.2040+244_2040+245insCACA | |
| NM_001322004.1:c.2040+244_2040+245insCACA | NP_001308933.1:n.2040+244_2040+245insCACA | |
| NM_001322005.1:c.2040+244_2040+245insCACA | NP_001308934.1:n.2040+244_2040+245insCACA | |
| NM_001322006.1:c.2289+244_2289+245insCACA | NP_001308935.1:n.2289+244_2289+245insCACA | |
| NM_001322007.1:c.2127+244_2127+245insCACA | NP_001308936.1:n.2127+244_2127+245insCACA | |
| NM_001322008.1:c.2127+244_2127+245insCACA | NP_001308937.1:n.2127+244_2127+245insCACA | |
| NM_001322009.1:c.2073+244_2073+245insCACA | NP_001308938.1:n.2073+244_2073+245insCACA | |
| NM_001322010.1:c.1884+244_1884+245insCACA | NP_001308939.1:n.1884+244_1884+245insCACA | |
| NM_001322011.1:c.1512+244_1512+245insCACA | NP_001308940.1:n.1512+244_1512+245insCACA | |
| NM_001322012.1:c.1512+244_1512+245insCACA | NP_001308941.1:n.1512+244_1512+245insCACA | |
| NM_001322013.1:c.1872+244_1872+245insCACA | NP_001308942.1:n.1872+244_1872+245insCACA | |
| NM_001322014.1:c.2478+244_2478+245insCACA | NP_001308943.1:n.2478+244_2478+245insCACA | |
| NM_001322015.1:c.2136+244_2136+245insCACA | NP_001308944.1:n.2136+244_2136+245insCACA | |
| NR_136154.1:n.2489+244_2489+245insCACA | ||
| XM_006715744.4:c.1512+244_1512+245insCACA | XP_006715807.1:n.1512+244_1512+245insCACA | |
| XM_017012342.2:c.1512+244_1512+245insCACA | XP_016867831.1:n.1512+244_1512+245insCACA | |
| XM_024446800.1:c.1884+244_1884+245insCACA | XP_024302568.1:n.1884+244_1884+245insCACA | |
| NM_000535.7:c.2445+244_2445+245insCACA MANE Select | NP_000526.2:n.2445+244_2445+245insCACA | |
| NM_001322003.2:c.2040+244_2040+245insCACA | NP_001308932.1:n.2040+244_2040+245insCACA | |
| NM_001322004.2:c.2040+244_2040+245insCACA | NP_001308933.1:n.2040+244_2040+245insCACA | |
| NM_001322005.2:c.2040+244_2040+245insCACA | NP_001308934.1:n.2040+244_2040+245insCACA | |
| NM_001322006.2:c.2289+244_2289+245insCACA | NP_001308935.1:n.2289+244_2289+245insCACA | |
| NM_001322008.2:c.2127+244_2127+245insCACA | NP_001308937.1:n.2127+244_2127+245insCACA | |
| NM_001322009.2:c.2073+244_2073+245insCACA | NP_001308938.1:n.2073+244_2073+245insCACA | |
| NM_001322010.2:c.1884+244_1884+245insCACA | NP_001308939.1:n.1884+244_1884+245insCACA | |
| NM_001322011.2:c.1512+244_1512+245insCACA | NP_001308940.1:n.1512+244_1512+245insCACA | |
| NM_001322012.2:c.1512+244_1512+245insCACA | NP_001308941.1:n.1512+244_1512+245insCACA | |
| NM_001322013.2:c.1872+244_1872+245insCACA | NP_001308942.1:n.1872+244_1872+245insCACA | |
| NM_001322014.2:c.2478+244_2478+245insCACA | NP_001308943.1:n.2478+244_2478+245insCACA | |
| NM_001322015.2:c.2136+244_2136+245insCACA | NP_001308944.1:n.2136+244_2136+245insCACA | |
| NM_001322007.2:c.2127+244_2127+245insCACA | NP_001308936.1:n.2127+244_2127+245insCACA |