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_000002.12:g.11783554_11783558delinsCTCTT , CM000664.2:g.11783554_11783558delinsCTCTT | GRCh38 |
| NC_000002.11:g.11923680_11923684delinsCTCTT , CM000664.1:g.11923680_11923684delinsCTCTT | GRCh37 |
| NC_000002.10:g.11841131_11841135delinsCTCTT | NCBI36 |
| NG_012843.2:g.110976_110980delinsCTCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674199.1:c.1265-275_1265-271delinsCTCTT MANE Select | ENSP00000501331.1:n.1265-275_1265-271delinsCTCTT | |
| ENST00000256720.6:c.1157-275_1157-271delinsCTCTT | ENSP00000256720.2:n.1157-275_1157-271delinsCTCTT | |
| ENST00000396097.5:c.1283-275_1283-271delinsCTCTT | ENSP00000379404.2:n.1283-275_1283-271delinsCTCTT | |
| ENST00000396098.5:c.1283-275_1283-271delinsCTCTT | ENSP00000379405.1:n.1283-275_1283-271delinsCTCTT | |
| ENST00000396099.5:c.1283-275_1283-271delinsCTCTT | ENSP00000379406.2:n.1283-275_1283-271delinsCTCTT | |
| ENST00000404113.6:n.750-275_750-271delinsCTCTT | ||
| ENST00000425416.6:c.1175-275_1175-271delinsCTCTT | ENSP00000401522.2:n.1175-275_1175-271delinsCTCTT | |
| ENST00000449576.6:c.1412-275_1412-271delinsCTCTT | ENSP00000397908.2:n.1412-275_1412-271delinsCTCTT | |
| ENST00000460096.1:n.145-275_145-271delinsCTCTT | ||
| NM_001261427.1:c.1175-275_1175-271delinsCTCTT | NP_001248356.1:n.1175-275_1175-271delinsCTCTT | |
| NM_001261428.1:c.1412-275_1412-271delinsCTCTT | NP_001248357.1:n.1412-275_1412-271delinsCTCTT | |
| NM_001261429.1:c.1283-275_1283-271delinsCTCTT | NP_001248358.1:n.1283-275_1283-271delinsCTCTT | |
| NM_145693.2:c.1157-275_1157-271delinsCTCTT | NP_663731.1:n.1157-275_1157-271delinsCTCTT | |
| XM_006711869.1:c.1304-275_1304-271delinsCTCTT | XP_006711932.1:n.1304-275_1304-271delinsCTCTT | |
| XM_006711870.2:c.1283-275_1283-271delinsCTCTT | XP_006711933.1:n.1283-275_1283-271delinsCTCTT | |
| XM_006711871.1:c.1265-275_1265-271delinsCTCTT | XP_006711934.1:n.1265-275_1265-271delinsCTCTT | |
| XM_006711872.1:c.1265-275_1265-271delinsCTCTT | XP_006711935.1:n.1265-275_1265-271delinsCTCTT | |
| XM_006711874.1:c.1265-275_1265-271delinsCTCTT | XP_006711937.1:n.1265-275_1265-271delinsCTCTT | |
| XM_011510333.1:c.1409-275_1409-271delinsCTCTT | XP_011508635.1:n.1409-275_1409-271delinsCTCTT | |
| XM_011510334.1:c.1283-275_1283-271delinsCTCTT | XP_011508636.1:n.1283-275_1283-271delinsCTCTT | |
| XM_011510335.1:c.1265-275_1265-271delinsCTCTT | XP_011508637.1:n.1265-275_1265-271delinsCTCTT | |
| XM_011510336.1:c.1265-275_1265-271delinsCTCTT | XP_011508638.1:n.1265-275_1265-271delinsCTCTT | |
| XM_011510337.1:c.1412-275_1412-271delinsCTCTT | XP_011508639.1:n.1412-275_1412-271delinsCTCTT | |
| XM_011510338.1:c.1412-275_1412-271delinsCTCTT | XP_011508640.1:n.1412-275_1412-271delinsCTCTT | |
| NM_001261427.2:c.1175-275_1175-271delinsCTCTT | NP_001248356.1:n.1175-275_1175-271delinsCTCTT | |
| NM_001261428.2:c.1412-275_1412-271delinsCTCTT | NP_001248357.1:n.1412-275_1412-271delinsCTCTT | |
| NM_001349199.1:c.1157-275_1157-271delinsCTCTT | NP_001336128.1:n.1157-275_1157-271delinsCTCTT | |
| NM_001349200.1:c.1157-275_1157-271delinsCTCTT | NP_001336129.1:n.1157-275_1157-271delinsCTCTT | |
| NM_001349201.1:c.1157-275_1157-271delinsCTCTT | NP_001336130.1:n.1157-275_1157-271delinsCTCTT | |
| NM_001349202.1:c.1262-275_1262-271delinsCTCTT | NP_001336131.1:n.1262-275_1262-271delinsCTCTT | |
| NM_001349203.1:c.1262-275_1262-271delinsCTCTT | NP_001336132.1:n.1262-275_1262-271delinsCTCTT | |
| NM_001349204.1:c.1265-275_1265-271delinsCTCTT | NP_001336133.1:n.1265-275_1265-271delinsCTCTT | |
| NM_001349205.1:c.1265-275_1265-271delinsCTCTT | NP_001336134.1:n.1265-275_1265-271delinsCTCTT | |
| NM_001349206.1:c.1265-275_1265-271delinsCTCTT | NP_001336135.1:n.1265-275_1265-271delinsCTCTT | |
| NM_001349207.1:c.1355-275_1355-271delinsCTCTT | NP_001336136.1:n.1355-275_1355-271delinsCTCTT | |
| NM_001349208.1:c.1304-275_1304-271delinsCTCTT | NP_001336137.1:n.1304-275_1304-271delinsCTCTT | |
| NM_145693.3:c.1157-275_1157-271delinsCTCTT | NP_663731.1:n.1157-275_1157-271delinsCTCTT | |
| NR_146080.1:n.1253-275_1253-271delinsCTCTT | ||
| XM_006711870.4:c.1283-275_1283-271delinsCTCTT | XP_006711933.1:n.1283-275_1283-271delinsCTCTT | |
| XM_006711872.3:c.1265-275_1265-271delinsCTCTT | XP_006711935.1:n.1265-275_1265-271delinsCTCTT | |
| XM_011510333.2:c.1409-275_1409-271delinsCTCTT | XP_011508635.1:n.1409-275_1409-271delinsCTCTT | |
| XM_011510334.3:c.1283-275_1283-271delinsCTCTT | XP_011508636.1:n.1283-275_1283-271delinsCTCTT | |
| XM_011510335.3:c.1265-275_1265-271delinsCTCTT | XP_011508637.1:n.1265-275_1265-271delinsCTCTT | |
| XM_011510336.3:c.1265-275_1265-271delinsCTCTT | XP_011508638.1:n.1265-275_1265-271delinsCTCTT | |
| XM_017003623.2:c.1334-275_1334-271delinsCTCTT | XP_016859112.1:n.1334-275_1334-271delinsCTCTT | |
| XM_017003624.2:c.1265-275_1265-271delinsCTCTT | XP_016859113.1:n.1265-275_1265-271delinsCTCTT | |
| XM_017003625.2:c.1265-275_1265-271delinsCTCTT | XP_016859114.1:n.1265-275_1265-271delinsCTCTT | |
| XM_017003627.2:c.1262-275_1262-271delinsCTCTT | XP_016859116.1:n.1262-275_1262-271delinsCTCTT | |
| XM_017003628.2:c.1157-275_1157-271delinsCTCTT | XP_016859117.1:n.1157-275_1157-271delinsCTCTT | |
| XM_017003629.1:c.1157-275_1157-271delinsCTCTT | XP_016859118.1:n.1157-275_1157-271delinsCTCTT | |
| XM_017003630.2:c.1157-275_1157-271delinsCTCTT | XP_016859119.1:n.1157-275_1157-271delinsCTCTT | |
| XM_017003631.1:c.1265-275_1265-271delinsCTCTT | XP_016859120.1:n.1265-275_1265-271delinsCTCTT | |
| XM_024452762.1:c.1265-275_1265-271delinsCTCTT | XP_024308530.1:n.1265-275_1265-271delinsCTCTT | |
| XM_024452763.1:c.1175-275_1175-271delinsCTCTT | XP_024308531.1:n.1175-275_1175-271delinsCTCTT | |
| NM_001261428.3:c.1412-275_1412-271delinsCTCTT | NP_001248357.1:n.1412-275_1412-271delinsCTCTT | |
| NM_001349199.2:c.1157-275_1157-271delinsCTCTT | NP_001336128.1:n.1157-275_1157-271delinsCTCTT | |
| NM_001349200.2:c.1157-275_1157-271delinsCTCTT | NP_001336129.1:n.1157-275_1157-271delinsCTCTT | |
| NM_001349201.2:c.1157-275_1157-271delinsCTCTT | NP_001336130.1:n.1157-275_1157-271delinsCTCTT | |
| NM_001349202.2:c.1262-275_1262-271delinsCTCTT | NP_001336131.1:n.1262-275_1262-271delinsCTCTT | |
| NM_001349203.2:c.1262-275_1262-271delinsCTCTT | NP_001336132.1:n.1262-275_1262-271delinsCTCTT | |
| NM_001349204.2:c.1265-275_1265-271delinsCTCTT | NP_001336133.1:n.1265-275_1265-271delinsCTCTT | |
| NM_001349206.2:c.1265-275_1265-271delinsCTCTT MANE Select | NP_001336135.1:n.1265-275_1265-271delinsCTCTT | |
| NM_001349207.2:c.1355-275_1355-271delinsCTCTT | NP_001336136.1:n.1355-275_1355-271delinsCTCTT | |
| NM_001349208.2:c.1304-275_1304-271delinsCTCTT | NP_001336137.1:n.1304-275_1304-271delinsCTCTT | |
| NM_145693.4:c.1157-275_1157-271delinsCTCTT | NP_663731.1:n.1157-275_1157-271delinsCTCTT | |
| NR_146080.2:n.1206-275_1206-271delinsCTCTT | ||
| NM_001261427.3:c.1175-275_1175-271delinsCTCTT | NP_001248356.1:n.1175-275_1175-271delinsCTCTT | |
| NM_001349205.2:c.1265-275_1265-271delinsCTCTT | NP_001336134.1:n.1265-275_1265-271delinsCTCTT |