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.2070923_2070937delinsCAGGGCAGAGCTGAG , CM000678.2:g.2070923_2070937delinsCAGGGCAGAGCTGAG | GRCh38 |
| NC_000016.9:g.2120924_2120938delinsCAGGGCAGAGCTGAG , CM000678.1:g.2120924_2120938delinsCAGGGCAGAGCTGAG | GRCh37 |
| NC_000016.8:g.2060925_2060939delinsCAGGGCAGAGCTGAG | NCBI36 |
| NG_005895.1:g.26618_26632delinsCAGGGCAGAGCTGAG , LRG_487:g.26618_26632delinsCAGGGCAGAGCTGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*386+345_*386+359delinsCAGGGCAGAGCTGAG | ENSP00000455997.2:n.*386+345_*386+359delinsCAGGGCAGAGCTGAG | |
| ENST00000642206.2:c.1884+345_1884+359delinsCAGGGCAGAGCTGAG | ENSP00000495146.2:n.1884+345_1884+359delinsCAGGGCAGAGCTGAG | |
| ENST00000642365.2:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000495459.2:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000644417.2:c.*1276+345_*1276+359delinsCAGGGCAGAGCTGAG | ENSP00000493912.2:n.*1276+345_*1276+359delinsCAGGGCAGAGCTGAG | |
| ENST00000646464.2:c.*1444+345_*1444+359delinsCAGGGCAGAGCTGAG | ENSP00000496610.2:n.*1444+345_*1444+359delinsCAGGGCAGAGCTGAG | |
| ENST00000219476.9:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG MANE Select | ENSP00000219476.3:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000350773.9:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000344383.4:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000401874.7:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000384468.2:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000568454.6:c.1872+345_1872+359delinsCAGGGCAGAGCTGAG | ENSP00000454487.1:n.1872+345_1872+359delinsCAGGGCAGAGCTGAG | |
| ENST00000642365.1:c.496+345_496+359delinsCAGGGCAGAGCTGAG | ||
| ENST00000642561.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000495099.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000642797.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000493846.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000642936.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000494514.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000643088.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000494747.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000643298.1:c.*1341+345_*1341+359delinsCAGGGCAGAGCTGAG | ENSP00000494393.1:n.*1341+345_*1341+359delinsCAGGGCAGAGCTGAG | |
| ENST00000643946.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000495927.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000644043.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000496262.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000644135.1:c.*339+345_*339+359delinsCAGGGCAGAGCTGAG | ENSP00000495644.1:n.*339+345_*339+359delinsCAGGGCAGAGCTGAG | |
| ENST00000644329.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000496611.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000644335.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000496317.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000644399.1:c.1832+345_1832+359delinsCAGGGCAGAGCTGAG | ||
| ENST00000644847.1:n.831+345_831+359delinsCAGGGCAGAGCTGAG | ||
| ENST00000645552.1:n.119+345_119+359delinsCAGGGCAGAGCTGAG | ||
| ENST00000646388.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000495921.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000646634.1:n.852+345_852+359delinsCAGGGCAGAGCTGAG | ||
| ENST00000219476.7:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000219476.3:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000350773.8:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000344383.4:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000382538.10:c.1692+345_1692+359delinsCAGGGCAGAGCTGAG | ENSP00000371978.6:n.1692+345_1692+359delinsCAGGGCAGAGCTGAG | |
| ENST00000401874.6:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | ENSP00000384468.2:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| ENST00000439117.6:c.*1138+345_*1138+359delinsCAGGGCAGAGCTGAG | ENSP00000406980.2:n.*1138+345_*1138+359delinsCAGGGCAGAGCTGAG | |
| ENST00000439673.6:c.1728+345_1728+359delinsCAGGGCAGAGCTGAG | ENSP00000399232.2:n.1728+345_1728+359delinsCAGGGCAGAGCTGAG | |
| ENST00000488675.5:n.346+345_346+359delinsCAGGGCAGAGCTGAG | ||
| ENST00000562474.1:n.564+345_564+359delinsCAGGGCAGAGCTGAG | ||
| ENST00000568454.5:c.1872+345_1872+359delinsCAGGGCAGAGCTGAG | ENSP00000454487.1:n.1872+345_1872+359delinsCAGGGCAGAGCTGAG | |
| ENST00000568566.5:c.479+345_479+359delinsCAGGGCAGAGCTGAG | ENSP00000455997.1:n.479+345_479+359delinsCAGGGCAGAGCTGAG | |
| NM_000548.3:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG , LRG_487t1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_000539.2:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| NM_001077183.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_001070651.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| NM_001114382.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_001107854.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_005255529.3:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_005255586.2:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_005255531.3:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_005255588.2:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_011522636.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_011520938.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_011522637.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_011520939.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_011522638.1:c.1728+345_1728+359delinsCAGGGCAGAGCTGAG | XP_011520940.1:n.1728+345_1728+359delinsCAGGGCAGAGCTGAG | |
| XM_011522639.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_011520941.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_011522640.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_011520942.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_011522641.1:c.1728+345_1728+359delinsCAGGGCAGAGCTGAG | XP_011520943.1:n.1728+345_1728+359delinsCAGGGCAGAGCTGAG | |
| NM_000548.4:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_000539.2:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| NM_001077183.2:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_001070651.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| NM_001114382.2:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_001107854.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| NM_001318827.1:c.1728+345_1728+359delinsCAGGGCAGAGCTGAG | NP_001305756.1:n.1728+345_1728+359delinsCAGGGCAGAGCTGAG | |
| NM_001318829.1:c.1692+345_1692+359delinsCAGGGCAGAGCTGAG | NP_001305758.1:n.1692+345_1692+359delinsCAGGGCAGAGCTGAG | |
| NM_001318831.1:c.1239+345_1239+359delinsCAGGGCAGAGCTGAG | NP_001305760.1:n.1239+345_1239+359delinsCAGGGCAGAGCTGAG | |
| NM_001318832.1:c.1872+345_1872+359delinsCAGGGCAGAGCTGAG | NP_001305761.1:n.1872+345_1872+359delinsCAGGGCAGAGCTGAG | |
| NM_001363528.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_001350457.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| NM_021055.2:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_066399.2:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_005255531.4:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_005255588.2:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_011522636.2:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_011520938.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_011522637.2:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_011520939.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_011522638.2:c.2001+345_2001+359delinsCAGGGCAGAGCTGAG | XP_011520940.2:n.2001+345_2001+359delinsCAGGGCAGAGCTGAG | |
| XM_011522639.2:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_011520941.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_011522640.2:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_011520942.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_017023615.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_016879104.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_017023616.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_016879105.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| XM_017023617.1:c.2001+345_2001+359delinsCAGGGCAGAGCTGAG | XP_016879106.1:n.2001+345_2001+359delinsCAGGGCAGAGCTGAG | |
| XM_017023618.1:c.495+345_495+359delinsCAGGGCAGAGCTGAG | XP_016879107.1:n.495+345_495+359delinsCAGGGCAGAGCTGAG | |
| XM_024450413.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | XP_024306181.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| NM_000548.5:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG MANE Select | NP_000539.2:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| NM_001370404.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_001357333.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| NM_001370405.1:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_001357334.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| NM_001077183.3:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_001070651.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| NM_001114382.3:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_001107854.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| NM_001318827.2:c.1728+345_1728+359delinsCAGGGCAGAGCTGAG | NP_001305756.1:n.1728+345_1728+359delinsCAGGGCAGAGCTGAG | |
| NM_001318829.2:c.1692+345_1692+359delinsCAGGGCAGAGCTGAG | NP_001305758.1:n.1692+345_1692+359delinsCAGGGCAGAGCTGAG | |
| NM_001318831.2:c.1239+345_1239+359delinsCAGGGCAGAGCTGAG | NP_001305760.1:n.1239+345_1239+359delinsCAGGGCAGAGCTGAG | |
| NM_001318832.2:c.1872+345_1872+359delinsCAGGGCAGAGCTGAG | NP_001305761.1:n.1872+345_1872+359delinsCAGGGCAGAGCTGAG | |
| NM_001363528.2:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_001350457.1:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG | |
| NM_021055.3:c.1839+345_1839+359delinsCAGGGCAGAGCTGAG | NP_066399.2:n.1839+345_1839+359delinsCAGGGCAGAGCTGAG |