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.2085232dup , CM000678.2:g.2085232dup | GRCh38 |
| NC_000016.9:g.2135233dup , CM000678.1:g.2135233dup | GRCh37 |
| NC_000016.8:g.2075234dup | NCBI36 |
| NG_005895.1:g.40927dup , LRG_487:g.40927dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2921dup | ENSP00000455997.2:n.*2921dup | |
| ENST00000642206.2:c.4419dup | ENSP00000495146.2:p.Gln1474ThrfsTer4 | |
| ENST00000642365.2:c.4569dup | ENSP00000495459.2:p.Gln1524ThrfsTer4 | |
| ENST00000644417.2:c.*4952dup | ENSP00000493912.2:n.*4952dup | |
| ENST00000646464.2:c.*7321dup | ENSP00000496610.2:n.*7321dup | |
| ENST00000219476.9:c.4572dup MANE Select | ENSP00000219476.3:p.Gln1525ThrfsTer4 | |
| ENST00000350773.9:c.4503dup | ENSP00000344383.4:p.Gln1502ThrfsTer4 | |
| ENST00000401874.7:c.4371dup | ENSP00000384468.2:p.Gln1458ThrfsTer4 | |
| ENST00000568454.6:c.4404dup | ENSP00000454487.1:p.Gln1469ThrfsTer4 | |
| ENST00000569110.2:c.795dup | ||
| ENST00000569930.2:n.2454dup | ||
| ENST00000642365.1:c.3226dup | ||
| ENST00000642561.1:c.4443dup | ENSP00000495099.1:p.Gln1482ThrfsTer4 | |
| ENST00000642728.1:n.754dup | ||
| ENST00000642791.1:n.169dup | ||
| ENST00000642797.1:c.4374dup | ENSP00000493846.1:p.Gln1459ThrfsTer4 | |
| ENST00000642936.1:c.4440dup | ENSP00000494514.1:p.Gln1481ThrfsTer4 | |
| ENST00000643088.1:c.4369-4dup | ENSP00000494747.1:n.4369-4dup | |
| ENST00000643177.1:n.586dup | ||
| ENST00000643426.1:n.2220dup | ||
| ENST00000643946.1:c.4501-4dup | ENSP00000495927.1:n.4501-4dup | |
| ENST00000644043.1:c.4443dup | ENSP00000496262.1:p.Gln1482ThrfsTer4 | |
| ENST00000644278.1:n.54dup | ||
| ENST00000644329.1:c.4371dup | ENSP00000496611.1:p.Gln1458ThrfsTer4 | |
| ENST00000644335.1:c.4372-4dup | ENSP00000496317.1:n.4372-4dup | |
| ENST00000644399.1:c.4493dup | ||
| ENST00000645024.1:n.2656dup | ||
| ENST00000646388.1:c.4570-4dup | ENSP00000495921.1:n.4570-4dup | |
| ENST00000646634.1:n.3387dup | ||
| ENST00000646674.1:n.1824dup | ||
| ENST00000647042.1:n.1795dup | ||
| ENST00000647180.1:n.1685dup | ||
| ENST00000219476.7:c.4572dup | ENSP00000219476.3:p.Gln1525ThrfsTer4 | |
| ENST00000350773.8:c.4503dup | ENSP00000344383.4:p.Gln1502ThrfsTer4 | |
| ENST00000382538.10:c.4227dup | ENSP00000371978.6:p.Gln1410ThrfsTer4 | |
| ENST00000401874.6:c.4371dup | ENSP00000384468.2:p.Gln1458ThrfsTer4 | |
| ENST00000439117.6:c.*3739dup | ENSP00000406980.2:n.*3739dup | |
| ENST00000439673.6:c.4263dup | ENSP00000399232.2:p.Gln1422ThrfsTer4 | |
| ENST00000497886.5:n.2330dup | ||
| ENST00000568454.5:c.4404dup | ENSP00000454487.1:p.Gln1469ThrfsTer4 | |
| ENST00000569110.1:c.754dup | ||
| ENST00000569930.1:n.1687dup | ||
| NM_000548.3:c.4572dup , LRG_487t1:c.4572dup | NP_000539.2:p.Gln1525ThrfsTer4 | |
| NM_001077183.1:c.4371dup | NP_001070651.1:p.Gln1458ThrfsTer4 | |
| NM_001114382.1:c.4503dup | NP_001107854.1:p.Gln1502ThrfsTer4 | |
| XM_005255529.3:c.4443dup | XP_005255586.2:p.Gln1482ThrfsTer4 | |
| XM_005255531.3:c.4374dup | XP_005255588.2:p.Gln1459ThrfsTer4 | |
| XM_011522636.1:c.4626dup | XP_011520938.1:p.Gln1543ThrfsTer4 | |
| XM_011522637.1:c.4623dup | XP_011520939.1:p.Gln1542ThrfsTer4 | |
| XM_011522638.1:c.4515dup | XP_011520940.1:p.Gln1506ThrfsTer4 | |
| XM_011522639.1:c.4497dup | XP_011520941.1:p.Gln1500ThrfsTer4 | |
| XM_011522640.1:c.4494dup | XP_011520942.1:p.Gln1499ThrfsTer4 | |
| XM_011522641.1:c.4263dup | XP_011520943.1:p.Gln1422ThrfsTer4 | |
| NM_000548.4:c.4572dup | NP_000539.2:p.Gln1525ThrfsTer4 | |
| NM_001077183.2:c.4371dup | NP_001070651.1:p.Gln1458ThrfsTer4 | |
| NM_001114382.2:c.4503dup | NP_001107854.1:p.Gln1502ThrfsTer4 | |
| NM_001318827.1:c.4263dup | NP_001305756.1:p.Gln1422ThrfsTer4 | |
| NM_001318829.1:c.4227dup | NP_001305758.1:p.Gln1410ThrfsTer4 | |
| NM_001318831.1:c.3840dup | NP_001305760.1:p.Gln1281ThrfsTer4 | |
| NM_001318832.1:c.4404dup | NP_001305761.1:p.Gln1469ThrfsTer4 | |
| NM_001363528.1:c.4374dup | NP_001350457.1:p.Gln1459ThrfsTer4 | |
| NM_021055.2:c.4443dup | NP_066399.2:p.Gln1482ThrfsTer4 | |
| XM_005255531.4:c.4374dup | XP_005255588.2:p.Gln1459ThrfsTer4 | |
| XM_011522636.2:c.4626dup | XP_011520938.1:p.Gln1543ThrfsTer4 | |
| XM_011522637.2:c.4623dup | XP_011520939.1:p.Gln1542ThrfsTer4 | |
| XM_011522638.2:c.4788dup | XP_011520940.2:p.Gln1597ThrfsTer4 | |
| XM_011522639.2:c.4497dup | XP_011520941.1:p.Gln1500ThrfsTer4 | |
| XM_011522640.2:c.4494dup | XP_011520942.1:p.Gln1499ThrfsTer4 | |
| XM_017023615.1:c.4569dup | XP_016879104.1:p.Gln1524ThrfsTer4 | |
| XM_017023616.1:c.4440dup | XP_016879105.1:p.Gln1481ThrfsTer4 | |
| XM_017023617.1:c.4536dup | XP_016879106.1:p.Gln1513ThrfsTer4 | |
| XM_017023618.1:c.3282dup | XP_016879107.1:p.Gln1095ThrfsTer4 | |
| XM_024450413.1:c.4371dup | XP_024306181.1:p.Gln1458ThrfsTer4 | |
| NM_000548.5:c.4572dup MANE Select | NP_000539.2:p.Gln1525ThrfsTer4 | |
| NM_001370404.1:c.4440dup | NP_001357333.1:p.Gln1481ThrfsTer4 | |
| NM_001370405.1:c.4443dup | NP_001357334.1:p.Gln1482ThrfsTer4 | |
| NM_001077183.3:c.4371dup | NP_001070651.1:p.Gln1458ThrfsTer4 | |
| NM_001114382.3:c.4503dup | NP_001107854.1:p.Gln1502ThrfsTer4 | |
| NM_001318827.2:c.4263dup | NP_001305756.1:p.Gln1422ThrfsTer4 | |
| NM_001318829.2:c.4227dup | NP_001305758.1:p.Gln1410ThrfsTer4 | |
| NM_001318831.2:c.3840dup | NP_001305760.1:p.Gln1281ThrfsTer4 | |
| NM_001318832.2:c.4404dup | NP_001305761.1:p.Gln1469ThrfsTer4 | |
| NM_001363528.2:c.4374dup | NP_001350457.1:p.Gln1459ThrfsTer4 | |
| NM_021055.3:c.4443dup | NP_066399.2:p.Gln1482ThrfsTer4 |