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.
Linked Data
dbSNP Id:
rs2128704070
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5982942del , CM000669.2:g.5982942del | GRCh38 |
| NC_000007.13:g.6022573del , CM000669.1:g.6022573del | GRCh37 |
| NC_000007.12:g.5989099del | NCBI36 |
| NG_008466.1:g.31167del , LRG_161:g.31167del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1454del | ENSP00000514615.2:n.*1454del | |
| ENST00000699840.2:c.2055del | ENSP00000514638.2:p.Phe685LeufsTer2 | |
| ENST00000699930.2:c.1950del | ENSP00000514695.2:p.Phe650LeufsTer2 | |
| ENST00000406569.8:c.1678+4147del | ENSP00000514464.1:n.1678+4147del | |
| ENST00000644110.2:c.*1652del | ENSP00000496392.2:n.*1652del | |
| ENST00000699752.1:c.1902del | ENSP00000514561.1:p.Phe634LeufsTer2 | |
| ENST00000699753.1:c.*1479del | ENSP00000514562.1:n.*1479del | |
| ENST00000699754.1:c.1860del | ENSP00000514563.1:p.Phe620LeufsTer2 | |
| ENST00000699755.1:c.*1457del | ENSP00000514564.1:n.*1457del | |
| ENST00000699756.1:c.*1645del | ENSP00000514565.1:n.*1645del | |
| ENST00000699757.1:c.*1315del | ENSP00000514566.1:n.*1315del | |
| ENST00000699758.1:c.*1315del | ENSP00000514567.1:n.*1315del | |
| ENST00000699759.1:n.2912del | ||
| ENST00000699760.1:c.1740del | ENSP00000514568.1:p.Phe580LeufsTer2 | |
| ENST00000699761.1:c.1653del | ENSP00000514569.1:p.Phe551LeufsTer2 | |
| ENST00000699762.1:c.1485del | ENSP00000514570.1:p.Phe495LeufsTer2 | |
| ENST00000699763.1:c.*1148del | ENSP00000514571.1:n.*1148del | |
| ENST00000699764.1:c.*376del | ENSP00000514572.1:n.*376del | |
| ENST00000699765.1:c.*1154del | ENSP00000514573.1:n.*1154del | |
| ENST00000699766.1:c.2058del | ENSP00000514574.1:p.Phe686LeufsTer2 | |
| ENST00000699767.1:c.2058del | ENSP00000514575.1:p.Phe686LeufsTer2 | |
| ENST00000699768.1:c.2058del | ENSP00000514576.1:p.Phe686LeufsTer2 | |
| ENST00000699811.1:c.1653del | ENSP00000514614.1:p.Phe551LeufsTer2 | |
| ENST00000699813.1:n.2171del | ||
| ENST00000699814.1:c.1681del | ||
| ENST00000699815.1:c.*1589del | ENSP00000514616.1:n.*1589del | |
| ENST00000699816.1:c.*948del | ENSP00000514617.1:n.*948del | |
| ENST00000699817.1:c.*1652del | ENSP00000514618.1:n.*1652del | |
| ENST00000699818.1:c.1653del | ENSP00000514619.1:p.Phe551LeufsTer2 | |
| ENST00000699819.1:c.*1215del | ENSP00000514620.1:n.*1215del | |
| ENST00000699820.1:c.1196del | ENSP00000514621.1:p.Leu399TyrfsTer7 | |
| ENST00000699821.1:c.1653del | ENSP00000514622.1:p.Phe551LeufsTer2 | |
| ENST00000699822.1:c.*1510del | ENSP00000514623.1:n.*1510del | |
| ENST00000699823.1:c.1653del | ENSP00000514624.1:p.Phe551LeufsTer2 | |
| ENST00000699824.1:c.*1561del | ENSP00000514625.1:n.*1561del | |
| ENST00000699825.1:c.1497del | ENSP00000514626.1:p.Phe499LeufsTer2 | |
| ENST00000699826.1:c.*1457del | ENSP00000514627.1:n.*1457del | |
| ENST00000699827.1:c.1890del | ENSP00000514628.1:p.Phe630LeufsTer2 | |
| ENST00000699828.1:c.*1148del | ENSP00000514629.1:n.*1148del | |
| ENST00000699833.1:n.3830del | ||
| ENST00000699837.1:c.1653del | ENSP00000514635.1:p.Phe551LeufsTer2 | |
| ENST00000699838.1:c.*1958del | ENSP00000514636.1:n.*1958del | |
| ENST00000699839.1:c.2244del | ENSP00000514637.1:p.Phe748LeufsTer2 | |
| ENST00000699916.1:c.*1315del | ENSP00000514684.1:n.*1315del | |
| ENST00000699917.1:c.*1507del | ENSP00000514685.1:n.*1507del | |
| ENST00000699918.1:c.*1559del | ENSP00000514686.1:n.*1559del | |
| ENST00000699919.1:c.*1645del | ENSP00000514687.1:n.*1645del | |
| ENST00000699920.1:c.*1694del | ENSP00000514688.1:n.*1694del | |
| ENST00000699928.1:c.1040del | ENSP00000514693.1:p.Leu347TyrfsTer7 | |
| ENST00000699951.1:c.*1154del | ENSP00000514706.1:n.*1154del | |
| ENST00000699952.1:c.804-9398del | ENSP00000514707.1:n.804-9398del | |
| ENST00000265849.12:c.2058del MANE Select | ENSP00000265849.7:p.Phe686LeufsTer2 | |
| ENST00000642292.1:c.1653del | ENSP00000495524.1:p.Phe551LeufsTer2 | |
| ENST00000642456.1:c.1653del | ENSP00000493814.1:p.Phe551LeufsTer2 | |
| ENST00000643595.1:c.*1457del | ENSP00000494497.1:n.*1457del | |
| ENST00000644110.1:c.1740del | ENSP00000496392.1:p.Phe580LeufsTer2 | |
| ENST00000265849.11:c.2058del | ENSP00000265849.7:p.Phe686LeufsTer2 | |
| ENST00000382321.5:c.855del | ENSP00000371758.4:p.Phe285LeufsTer2 | |
| ENST00000406569.7:n.1678+4147del | ||
| ENST00000441476.6:c.1740del | ENSP00000392843.2:p.Phe580LeufsTer2 | |
| ENST00000469652.1:n.63-35del | ||
| NM_000535.5:c.2058del , LRG_161t1:c.2058del | NP_000526.1:p.Phe686LeufsTer2 | |
| NR_003085.2:n.2140del | ||
| XM_006715742.2:c.2052del | XP_006715805.1:p.Phe684LeufsTer2 | |
| XM_006715744.2:c.1125del | XP_006715807.1:p.Phe375LeufsTer2 | |
| XM_011515427.1:c.2103del | XP_011513729.1:p.Phe701LeufsTer2 | |
| XM_011515428.1:c.1947del | XP_011513730.1:p.Phe649LeufsTer2 | |
| XM_011515429.1:c.1740del | XP_011513731.1:p.Phe580LeufsTer2 | |
| XM_011515430.1:c.1740del | XP_011513732.1:p.Phe580LeufsTer2 | |
| NM_000535.6:c.2058del | NP_000526.2:p.Phe686LeufsTer2 | |
| NM_001322003.1:c.1653del | NP_001308932.1:p.Phe551LeufsTer2 | |
| NM_001322004.1:c.1653del | NP_001308933.1:p.Phe551LeufsTer2 | |
| NM_001322005.1:c.1653del | NP_001308934.1:p.Phe551LeufsTer2 | |
| NM_001322006.1:c.1902del | NP_001308935.1:p.Phe634LeufsTer2 | |
| NM_001322007.1:c.1740del | NP_001308936.1:p.Phe580LeufsTer2 | |
| NM_001322008.1:c.1740del | NP_001308937.1:p.Phe580LeufsTer2 | |
| NM_001322009.1:c.1653del | NP_001308938.1:p.Phe551LeufsTer2 | |
| NM_001322010.1:c.1497del | NP_001308939.1:p.Phe499LeufsTer2 | |
| NM_001322011.1:c.1125del | NP_001308940.1:p.Phe375LeufsTer2 | |
| NM_001322012.1:c.1125del | NP_001308941.1:p.Phe375LeufsTer2 | |
| NM_001322013.1:c.1485del | NP_001308942.1:p.Phe495LeufsTer2 | |
| NM_001322014.1:c.2058del | NP_001308943.1:p.Phe686LeufsTer2 | |
| NM_001322015.1:c.1749del | NP_001308944.1:p.Phe583LeufsTer2 | |
| NR_136154.1:n.2145del | ||
| XM_006715744.4:c.1125del | XP_006715807.1:p.Phe375LeufsTer2 | |
| XM_017012342.2:c.1125del | XP_016867831.1:p.Phe375LeufsTer2 | |
| XM_024446800.1:c.1497del | XP_024302568.1:p.Phe499LeufsTer2 | |
| NM_000535.7:c.2058del MANE Select | NP_000526.2:p.Phe686LeufsTer2 | |
| NM_001322003.2:c.1653del | NP_001308932.1:p.Phe551LeufsTer2 | |
| NM_001322004.2:c.1653del | NP_001308933.1:p.Phe551LeufsTer2 | |
| NM_001322005.2:c.1653del | NP_001308934.1:p.Phe551LeufsTer2 | |
| NM_001322006.2:c.1902del | NP_001308935.1:p.Phe634LeufsTer2 | |
| NM_001322008.2:c.1740del | NP_001308937.1:p.Phe580LeufsTer2 | |
| NM_001322009.2:c.1653del | NP_001308938.1:p.Phe551LeufsTer2 | |
| NM_001322010.2:c.1497del | NP_001308939.1:p.Phe499LeufsTer2 | |
| NM_001322011.2:c.1125del | NP_001308940.1:p.Phe375LeufsTer2 | |
| NM_001322012.2:c.1125del | NP_001308941.1:p.Phe375LeufsTer2 | |
| NM_001322013.2:c.1485del | NP_001308942.1:p.Phe495LeufsTer2 | |
| NM_001322014.2:c.2058del | NP_001308943.1:p.Phe686LeufsTer2 | |
| NM_001322015.2:c.1749del | NP_001308944.1:p.Phe583LeufsTer2 | |
| NM_001322007.2:c.1740del | NP_001308936.1:p.Phe580LeufsTer2 |