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_000003.12:g.194604363_194604364insCCTCCGCCGCGACGGCGACCGCGATACCCTCACGCTTCACTTCCCCAAGACTCATGAGGGCAACCTCCGTGGCTGTCGCGTCATCGTTCGCGGCGTGACCTACCGCGTGATAGGCGATCCGCAAC , CM000665.2:g.194604363_194604364insCCTCCGCCGCGACGGCGACCGCGATACCCTCACGCTTCACTTCCCCAAGACTCATGAGGGCAACCTCCGTGGCTGTCGCGTCATCGTTCGCGGCGTGACCTACCGCGTGATAGGCGATCCGCAAC | GRCh38 |
| NC_000003.11:g.194325092_194325093insCCTCCGCCGCGACGGCGACCGCGATACCCTCACGCTTCACTTCCCCAAGACTCATGAGGGCAACCTCCGTGGCTGTCGCGTCATCGTTCGCGGCGTGACCTACCGCGTGATAGGCGATCCGCAAC , CM000665.1:g.194325092_194325093insCCTCCGCCGCGACGGCGACCGCGATACCCTCACGCTTCACTTCCCCAAGACTCATGAGGGCAACCTCCGTGGCTGTCGCGTCATCGTTCGCGGCGTGACCTACCGCGTGATAGGCGATCCGCAAC | GRCh37 |
| NC_000003.10:g.195806381_195806382insCCTCCGCCGCGACGGCGACCGCGATACCCTCACGCTTCACTTCCCCAAGACTCATGAGGGCAACCTCCGTGGCTGTCGCGTCATCGTTCGCGGCGTGACCTACCGCGTGATAGGCGATCCGCAAC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347147.9:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG MANE Select | ENSP00000333355.6:p.Pro367ArgfsTer9 | |
| ENST00000347147.8:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | ENSP00000333355.6:p.Pro367ArgfsTer9 | |
| ENST00000381975.7:c.1095_1096insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | ENSP00000371402.3:p.Leu366ValfsTer15 | |
| ENST00000392432.6:c.1240_1241insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | ENSP00000376227.2:p.Pro414ArgfsTer9 | |
| ENST00000419280.5:c.*395_*396insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | ENSP00000414077.1:n.*395_*396insGTTGCGGATCGCCTATCACGCGGTAGGTC... | |
| ENST00000429560.1:c.291_292insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | ENSP00000403053.1:p.Leu98ValfsTer15 | |
| ENST00000432352.5:c.373_374insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | ENSP00000409963.1:p.Pro125ArgfsTer9 | |
| ENST00000452358.5:c.598_599insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | ENSP00000414333.1:p.Pro200ArgfsTer9 | |
| ENST00000467284.1:n.145_146insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | ||
| ENST00000473092.5:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | ENSP00000418674.1:p.Pro367ArgfsTer9 | |
| ENST00000477651.5:n.863_864insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | ||
| NM_001011655.2:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | NP_001011655.1:p.Pro367ArgfsTer9 | |
| NM_001166305.1:c.1240_1241insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | NP_001159777.1:p.Pro414ArgfsTer9 | |
| NM_001166306.1:c.1095_1096insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | NP_001159778.1:p.Leu366ValfsTer15 | |
| NM_138399.4:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | NP_612408.3:p.Pro367ArgfsTer9 | |
| XM_005269371.3:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_005269428.1:p.Pro367ArgfsTer9 | |
| XM_011513318.1:c.1249_1250insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_011511620.1:p.Pro417ArgfsTer9 | |
| XM_011513319.1:c.1186_1187insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_011511621.1:p.Pro396ArgfsTer9 | |
| XM_011513320.1:c.1297_1298insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_011511622.1:p.Pro433ArgfsTer9 | |
| XM_011513321.1:c.1165_1166insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_011511623.1:p.Pro389ArgfsTer9 | |
| XM_011513322.1:c.1156_1157insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_011511624.1:p.Pro386ArgfsTer9 | |
| XM_011513323.1:c.994_995insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_011511625.1:p.Pro332ArgfsTer9 | |
| XM_005269371.4:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_005269428.1:p.Pro367ArgfsTer9 | |
| XM_011513318.2:c.1249_1250insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_011511620.1:p.Pro417ArgfsTer9 | |
| XM_011513319.2:c.1186_1187insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_011511621.1:p.Pro396ArgfsTer9 | |
| XM_011513320.2:c.1297_1298insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_011511622.1:p.Pro433ArgfsTer9 | |
| XM_011513321.2:c.1165_1166insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_011511623.1:p.Pro389ArgfsTer9 | |
| XM_011513322.2:c.1156_1157insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_011511624.1:p.Pro386ArgfsTer9 | |
| XM_017007517.1:c.1108_1109insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_016863006.1:p.Pro370ArgfsTer9 | |
| XM_017007518.1:c.1108_1109insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | XP_016863007.1:p.Pro370ArgfsTer9 | |
| NM_001011655.3:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG MANE Select | NP_001011655.1:p.Pro367ArgfsTer9 | |
| NM_001166305.2:c.1240_1241insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | NP_001159777.1:p.Pro414ArgfsTer9 | |
| NM_001166306.2:c.1095_1096insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | NP_001159778.1:p.Leu366ValfsTer15 | |
| NM_138399.5:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG | NP_612408.3:p.Pro367ArgfsTer9 |