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_000016.10:g.2085251del , CM000678.2:g.2085251del | GRCh38 |
| NC_000016.9:g.2135252del , CM000678.1:g.2135252del | GRCh37 |
| NC_000016.8:g.2075253del | NCBI36 |
| NG_005895.1:g.40946del , LRG_487:g.40946del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2940del | ENSP00000455997.2:n.*2940del | |
| ENST00000642206.2:c.4438del | ENSP00000495146.2:p.Val1480CysfsTer? | |
| ENST00000642365.2:c.4588del | ENSP00000495459.2:p.Val1530CysfsTer? | |
| ENST00000644417.2:c.*4971del | ENSP00000493912.2:n.*4971del | |
| ENST00000646464.2:c.*7340del | ENSP00000496610.2:n.*7340del | |
| ENST00000219476.9:c.4591del MANE Select | ENSP00000219476.3:p.Val1531CysfsTer? | |
| ENST00000350773.9:c.4522del | ENSP00000344383.4:p.Val1508CysfsTer? | |
| ENST00000401874.7:c.4390del | ENSP00000384468.2:p.Val1464CysfsTer? | |
| ENST00000568454.6:c.4423del | ENSP00000454487.1:p.Val1475CysfsTer? | |
| ENST00000569110.2:c.814del | ||
| ENST00000569930.2:n.2473del | ||
| ENST00000642365.1:c.3245del | ||
| ENST00000642561.1:c.4462del | ENSP00000495099.1:p.Val1488CysfsTer? | |
| ENST00000642728.1:n.773del | ||
| ENST00000642791.1:n.188del | ||
| ENST00000642797.1:c.4393del | ENSP00000493846.1:p.Val1465CysfsTer? | |
| ENST00000642936.1:c.4459del | ENSP00000494514.1:p.Val1487CysfsTer? | |
| ENST00000643088.1:c.4384del | ENSP00000494747.1:p.Val1462CysfsTer? | |
| ENST00000643177.1:n.605del | ||
| ENST00000643426.1:n.2239del | ||
| ENST00000643946.1:c.4516del | ENSP00000495927.1:p.Val1506CysfsTer? | |
| ENST00000644043.1:c.4462del | ENSP00000496262.1:p.Val1488CysfsTer? | |
| ENST00000644278.1:n.73del | ||
| ENST00000644329.1:c.4390del | ENSP00000496611.1:p.Val1464CysfsTer? | |
| ENST00000644335.1:c.4387del | ENSP00000496317.1:p.Val1463CysfsTer? | |
| ENST00000644399.1:c.4512del | ||
| ENST00000645024.1:n.2675del | ||
| ENST00000646388.1:c.4585del | ENSP00000495921.1:p.Val1529CysfsTer? | |
| ENST00000646634.1:n.3406del | ||
| ENST00000646674.1:n.1843del | ||
| ENST00000647042.1:n.1814del | ||
| ENST00000647180.1:n.1704del | ||
| ENST00000219476.7:c.4591del | ENSP00000219476.3:p.Val1531CysfsTer? | |
| ENST00000350773.8:c.4522del | ENSP00000344383.4:p.Val1508CysfsTer? | |
| ENST00000382538.10:c.4246del | ENSP00000371978.6:p.Val1416CysfsTer? | |
| ENST00000401874.6:c.4390del | ENSP00000384468.2:p.Val1464CysfsTer? | |
| ENST00000439117.6:c.*3758del | ENSP00000406980.2:n.*3758del | |
| ENST00000439673.6:c.4282del | ENSP00000399232.2:p.Val1428CysfsTer? | |
| ENST00000497886.5:n.2349del | ||
| ENST00000568454.5:c.4423del | ENSP00000454487.1:p.Val1475CysfsTer? | |
| ENST00000569110.1:c.773del | ||
| ENST00000569930.1:n.1706del | ||
| NM_000548.3:c.4591del , LRG_487t1:c.4591del | NP_000539.2:p.Val1531CysfsTer? | |
| NM_001077183.1:c.4390del | NP_001070651.1:p.Val1464CysfsTer? | |
| NM_001114382.1:c.4522del | NP_001107854.1:p.Val1508CysfsTer? | |
| XM_005255529.3:c.4462del | XP_005255586.2:p.Val1488CysfsTer? | |
| XM_005255531.3:c.4393del | XP_005255588.2:p.Val1465CysfsTer? | |
| XM_011522636.1:c.4645del | XP_011520938.1:p.Val1549CysfsTer? | |
| XM_011522637.1:c.4642del | XP_011520939.1:p.Val1548CysfsTer? | |
| XM_011522638.1:c.4534del | XP_011520940.1:p.Val1512CysfsTer? | |
| XM_011522639.1:c.4516del | XP_011520941.1:p.Val1506CysfsTer? | |
| XM_011522640.1:c.4513del | XP_011520942.1:p.Val1505CysfsTer? | |
| XM_011522641.1:c.4282del | XP_011520943.1:p.Val1428CysfsTer? | |
| NM_000548.4:c.4591del | NP_000539.2:p.Val1531CysfsTer? | |
| NM_001077183.2:c.4390del | NP_001070651.1:p.Val1464CysfsTer? | |
| NM_001114382.2:c.4522del | NP_001107854.1:p.Val1508CysfsTer? | |
| NM_001318827.1:c.4282del | NP_001305756.1:p.Val1428CysfsTer? | |
| NM_001318829.1:c.4246del | NP_001305758.1:p.Val1416CysfsTer? | |
| NM_001318831.1:c.3859del | NP_001305760.1:p.Val1287CysfsTer? | |
| NM_001318832.1:c.4423del | NP_001305761.1:p.Val1475CysfsTer? | |
| NM_001363528.1:c.4393del | NP_001350457.1:p.Val1465CysfsTer? | |
| NM_021055.2:c.4462del | NP_066399.2:p.Val1488CysfsTer? | |
| XM_005255531.4:c.4393del | XP_005255588.2:p.Val1465CysfsTer? | |
| XM_011522636.2:c.4645del | XP_011520938.1:p.Val1549CysfsTer? | |
| XM_011522637.2:c.4642del | XP_011520939.1:p.Val1548CysfsTer? | |
| XM_011522638.2:c.4807del | XP_011520940.2:p.Val1603CysfsTer? | |
| XM_011522639.2:c.4516del | XP_011520941.1:p.Val1506CysfsTer? | |
| XM_011522640.2:c.4513del | XP_011520942.1:p.Val1505CysfsTer? | |
| XM_017023615.1:c.4588del | XP_016879104.1:p.Val1530CysfsTer? | |
| XM_017023616.1:c.4459del | XP_016879105.1:p.Val1487CysfsTer? | |
| XM_017023617.1:c.4555del | XP_016879106.1:p.Val1519CysfsTer? | |
| XM_017023618.1:c.3301del | XP_016879107.1:p.Val1101CysfsTer? | |
| XM_024450413.1:c.4390del | XP_024306181.1:p.Val1464CysfsTer? | |
| NM_000548.5:c.4591del MANE Select | NP_000539.2:p.Val1531CysfsTer? | |
| NM_001370404.1:c.4459del | NP_001357333.1:p.Val1487CysfsTer? | |
| NM_001370405.1:c.4462del | NP_001357334.1:p.Val1488CysfsTer? | |
| NM_001077183.3:c.4390del | NP_001070651.1:p.Val1464CysfsTer? | |
| NM_001114382.3:c.4522del | NP_001107854.1:p.Val1508CysfsTer? | |
| NM_001318827.2:c.4282del | NP_001305756.1:p.Val1428CysfsTer? | |
| NM_001318829.2:c.4246del | NP_001305758.1:p.Val1416CysfsTer? | |
| NM_001318831.2:c.3859del | NP_001305760.1:p.Val1287CysfsTer? | |
| NM_001318832.2:c.4423del | NP_001305761.1:p.Val1475CysfsTer? | |
| NM_001363528.2:c.4393del | NP_001350457.1:p.Val1465CysfsTer? | |
| NM_021055.3:c.4462del | NP_066399.2:p.Val1488CysfsTer? |