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.5982959_5982965del , CM000669.2:g.5982959_5982965del | GRCh38 |
| NC_000007.13:g.6022590_6022596del , CM000669.1:g.6022590_6022596del | GRCh37 |
| NC_000007.12:g.5989116_5989122del | NCBI36 |
| NG_008466.1:g.31145_31151del , LRG_161:g.31145_31151del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1432_*1438del | ENSP00000514615.2:n.*1432_*1438del | |
| ENST00000699840.2:c.2033_2039del | ENSP00000514638.2:p.Ile678SerfsTer7 | |
| ENST00000699930.2:c.1928_1934del | ENSP00000514695.2:p.Ile643SerfsTer7 | |
| ENST00000406569.8:c.1678+4125_1678+4131del | ENSP00000514464.1:n.1678+4125_1678+4131del | |
| ENST00000644110.2:c.*1630_*1636del | ENSP00000496392.2:n.*1630_*1636del | |
| ENST00000699752.1:c.1880_1886del | ENSP00000514561.1:p.Ile627SerfsTer7 | |
| ENST00000699753.1:c.*1457_*1463del | ENSP00000514562.1:n.*1457_*1463del | |
| ENST00000699754.1:c.1838_1844del | ENSP00000514563.1:p.Ile613SerfsTer7 | |
| ENST00000699755.1:c.*1435_*1441del | ENSP00000514564.1:n.*1435_*1441del | |
| ENST00000699756.1:c.*1623_*1629del | ENSP00000514565.1:n.*1623_*1629del | |
| ENST00000699757.1:c.*1293_*1299del | ENSP00000514566.1:n.*1293_*1299del | |
| ENST00000699758.1:c.*1293_*1299del | ENSP00000514567.1:n.*1293_*1299del | |
| ENST00000699759.1:n.2890_2896del | ||
| ENST00000699760.1:c.1718_1724del | ENSP00000514568.1:p.Ile573SerfsTer7 | |
| ENST00000699761.1:c.1631_1637del | ENSP00000514569.1:p.Ile544SerfsTer7 | |
| ENST00000699762.1:c.1463_1469del | ENSP00000514570.1:p.Ile488SerfsTer7 | |
| ENST00000699763.1:c.*1126_*1132del | ENSP00000514571.1:n.*1126_*1132del | |
| ENST00000699764.1:c.*354_*360del | ENSP00000514572.1:n.*354_*360del | |
| ENST00000699765.1:c.*1132_*1138del | ENSP00000514573.1:n.*1132_*1138del | |
| ENST00000699766.1:c.2036_2042del | ENSP00000514574.1:p.Ile679SerfsTer7 | |
| ENST00000699767.1:c.2036_2042del | ENSP00000514575.1:p.Ile679SerfsTer7 | |
| ENST00000699768.1:c.2036_2042del | ENSP00000514576.1:p.Ile679SerfsTer7 | |
| ENST00000699811.1:c.1631_1637del | ENSP00000514614.1:p.Ile544SerfsTer7 | |
| ENST00000699813.1:n.2149_2155del | ||
| ENST00000699814.1:c.1659_1665del | ||
| ENST00000699815.1:c.*1567_*1573del | ENSP00000514616.1:n.*1567_*1573del | |
| ENST00000699816.1:c.*926_*932del | ENSP00000514617.1:n.*926_*932del | |
| ENST00000699817.1:c.*1630_*1636del | ENSP00000514618.1:n.*1630_*1636del | |
| ENST00000699818.1:c.1631_1637del | ENSP00000514619.1:p.Ile544SerfsTer7 | |
| ENST00000699819.1:c.*1193_*1199del | ENSP00000514620.1:n.*1193_*1199del | |
| ENST00000699820.1:c.1174_1180del | ENSP00000514621.1:p.Leu392ValfsTer2 | |
| ENST00000699821.1:c.1631_1637del | ENSP00000514622.1:p.Ile544SerfsTer7 | |
| ENST00000699822.1:c.*1488_*1494del | ENSP00000514623.1:n.*1488_*1494del | |
| ENST00000699823.1:c.1631_1637del | ENSP00000514624.1:p.Ile544SerfsTer7 | |
| ENST00000699824.1:c.*1539_*1545del | ENSP00000514625.1:n.*1539_*1545del | |
| ENST00000699825.1:c.1475_1481del | ENSP00000514626.1:p.Ile492SerfsTer7 | |
| ENST00000699826.1:c.*1435_*1441del | ENSP00000514627.1:n.*1435_*1441del | |
| ENST00000699827.1:c.1868_1874del | ENSP00000514628.1:p.Ile623SerfsTer7 | |
| ENST00000699828.1:c.*1126_*1132del | ENSP00000514629.1:n.*1126_*1132del | |
| ENST00000699833.1:n.3808_3814del | ||
| ENST00000699837.1:c.1631_1637del | ENSP00000514635.1:p.Ile544SerfsTer7 | |
| ENST00000699838.1:c.*1936_*1942del | ENSP00000514636.1:n.*1936_*1942del | |
| ENST00000699839.1:c.2222_2228del | ENSP00000514637.1:p.Ile741SerfsTer7 | |
| ENST00000699916.1:c.*1293_*1299del | ENSP00000514684.1:n.*1293_*1299del | |
| ENST00000699917.1:c.*1485_*1491del | ENSP00000514685.1:n.*1485_*1491del | |
| ENST00000699918.1:c.*1537_*1543del | ENSP00000514686.1:n.*1537_*1543del | |
| ENST00000699919.1:c.*1623_*1629del | ENSP00000514687.1:n.*1623_*1629del | |
| ENST00000699920.1:c.*1672_*1678del | ENSP00000514688.1:n.*1672_*1678del | |
| ENST00000699928.1:c.1018_1024del | ENSP00000514693.1:p.Leu340ValfsTer2 | |
| ENST00000699951.1:c.*1132_*1138del | ENSP00000514706.1:n.*1132_*1138del | |
| ENST00000699952.1:c.804-9420_804-9414del | ENSP00000514707.1:n.804-9420_804-9414del | |
| ENST00000265849.12:c.2036_2042del MANE Select | ENSP00000265849.7:p.Ile679SerfsTer7 | |
| ENST00000642292.1:c.1631_1637del | ENSP00000495524.1:p.Ile544SerfsTer7 | |
| ENST00000642456.1:c.1631_1637del | ENSP00000493814.1:p.Ile544SerfsTer7 | |
| ENST00000643595.1:c.*1435_*1441del | ENSP00000494497.1:n.*1435_*1441del | |
| ENST00000644110.1:c.1718_1724del | ENSP00000496392.1:p.Ile573SerfsTer7 | |
| ENST00000265849.11:c.2036_2042del | ENSP00000265849.7:p.Ile679SerfsTer7 | |
| ENST00000382321.5:c.833_839del | ENSP00000371758.4:p.Ile278SerfsTer7 | |
| ENST00000406569.7:n.1678+4125_1678+4131del | ||
| ENST00000441476.6:c.1718_1724del | ENSP00000392843.2:p.Ile573SerfsTer7 | |
| ENST00000469652.1:n.63-57_63-51del | ||
| NM_000535.5:c.2036_2042del , LRG_161t1:c.2036_2042del | NP_000526.1:p.Ile679SerfsTer7 | |
| NR_003085.2:n.2118_2124del | ||
| XM_006715742.2:c.2030_2036del | XP_006715805.1:p.Ile677SerfsTer7 | |
| XM_006715744.2:c.1103_1109del | XP_006715807.1:p.Ile368SerfsTer7 | |
| XM_011515427.1:c.2081_2087del | XP_011513729.1:p.Ile694SerfsTer7 | |
| XM_011515428.1:c.1925_1931del | XP_011513730.1:p.Ile642SerfsTer7 | |
| XM_011515429.1:c.1718_1724del | XP_011513731.1:p.Ile573SerfsTer7 | |
| XM_011515430.1:c.1718_1724del | XP_011513732.1:p.Ile573SerfsTer7 | |
| NM_000535.6:c.2036_2042del | NP_000526.2:p.Ile679SerfsTer7 | |
| NM_001322003.1:c.1631_1637del | NP_001308932.1:p.Ile544SerfsTer7 | |
| NM_001322004.1:c.1631_1637del | NP_001308933.1:p.Ile544SerfsTer7 | |
| NM_001322005.1:c.1631_1637del | NP_001308934.1:p.Ile544SerfsTer7 | |
| NM_001322006.1:c.1880_1886del | NP_001308935.1:p.Ile627SerfsTer7 | |
| NM_001322007.1:c.1718_1724del | NP_001308936.1:p.Ile573SerfsTer7 | |
| NM_001322008.1:c.1718_1724del | NP_001308937.1:p.Ile573SerfsTer7 | |
| NM_001322009.1:c.1631_1637del | NP_001308938.1:p.Ile544SerfsTer7 | |
| NM_001322010.1:c.1475_1481del | NP_001308939.1:p.Ile492SerfsTer7 | |
| NM_001322011.1:c.1103_1109del | NP_001308940.1:p.Ile368SerfsTer7 | |
| NM_001322012.1:c.1103_1109del | NP_001308941.1:p.Ile368SerfsTer7 | |
| NM_001322013.1:c.1463_1469del | NP_001308942.1:p.Ile488SerfsTer7 | |
| NM_001322014.1:c.2036_2042del | NP_001308943.1:p.Ile679SerfsTer7 | |
| NM_001322015.1:c.1727_1733del | NP_001308944.1:p.Ile576SerfsTer7 | |
| NR_136154.1:n.2123_2129del | ||
| XM_006715744.4:c.1103_1109del | XP_006715807.1:p.Ile368SerfsTer7 | |
| XM_017012342.2:c.1103_1109del | XP_016867831.1:p.Ile368SerfsTer7 | |
| XM_024446800.1:c.1475_1481del | XP_024302568.1:p.Ile492SerfsTer7 | |
| NM_000535.7:c.2036_2042del MANE Select | NP_000526.2:p.Ile679SerfsTer7 | |
| NM_001322003.2:c.1631_1637del | NP_001308932.1:p.Ile544SerfsTer7 | |
| NM_001322004.2:c.1631_1637del | NP_001308933.1:p.Ile544SerfsTer7 | |
| NM_001322005.2:c.1631_1637del | NP_001308934.1:p.Ile544SerfsTer7 | |
| NM_001322006.2:c.1880_1886del | NP_001308935.1:p.Ile627SerfsTer7 | |
| NM_001322008.2:c.1718_1724del | NP_001308937.1:p.Ile573SerfsTer7 | |
| NM_001322009.2:c.1631_1637del | NP_001308938.1:p.Ile544SerfsTer7 | |
| NM_001322010.2:c.1475_1481del | NP_001308939.1:p.Ile492SerfsTer7 | |
| NM_001322011.2:c.1103_1109del | NP_001308940.1:p.Ile368SerfsTer7 | |
| NM_001322012.2:c.1103_1109del | NP_001308941.1:p.Ile368SerfsTer7 | |
| NM_001322013.2:c.1463_1469del | NP_001308942.1:p.Ile488SerfsTer7 | |
| NM_001322014.2:c.2036_2042del | NP_001308943.1:p.Ile679SerfsTer7 | |
| NM_001322015.2:c.1727_1733del | NP_001308944.1:p.Ile576SerfsTer7 | |
| NM_001322007.2:c.1718_1724del | NP_001308936.1:p.Ile573SerfsTer7 |