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_000017.11:g.3656447_3656448insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC , CM000679.2:g.3656447_3656448insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC | GRCh38 |
| NC_000017.10:g.3559741_3559742insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC , CM000679.1:g.3559741_3559742insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC | GRCh37 |
| NC_000017.9:g.3506490_3506491insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC | NCBI36 |
| NG_012489.1:g.24980_24981insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC | |
| NG_012489.2:g.24980_24981insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000046640.9:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) MANE Select | ENSP00000046640.4:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCAC... | |
| ENST00000381870.8:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | ENSP00000371294.3:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCAC... | |
| ENST00000488623.6:c.-292-40_-292-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | ENSP00000501016.1:n.-292-40_-292-39insCTCACCCTCTGCCCTGTCCCTCC... | |
| ENST00000574776.6:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | ENSP00000461118.2:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCC... | |
| ENST00000673669.1:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | ENSP00000501123.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCC... | |
| ENST00000673965.1:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | ENSP00000500995.1:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCAC... | |
| ENST00000046640.7:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | ENSP00000046640.3:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCAC... | |
| ENST00000381870.7:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | ENSP00000371294.3:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCAC... | |
| ENST00000574218.1:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | ENSP00000458912.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCC... | |
| ENST00000574776.5:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | ENSP00000461118.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCC... | |
| ENST00000576979.1:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | ENSP00000458457.1:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCAC... | |
| NM_001031681.2:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | NP_001026851.2:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCC... | |
| NM_004937.2:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | NP_004928.2:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGC... | |
| XM_005256485.1:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_005256542.1:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCC... | |
| XM_006721463.1:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_006721526.1:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCC... | |
| XM_006721464.1:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_006721527.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTG... | |
| XM_011523691.1:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_011521993.1:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCC... | |
| XM_011523692.1:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_011521994.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTG... | |
| XR_934003.1:n.1055-40_1055-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | ||
| XR_934158.1:n.1143+411_1143+412insGGGCAGGGGTGGAGGGACAGGGCAGAGGGTGAGGAC (CTNS-AS1) | ||
| XR_934159.1:n.433+411_433+412insGGGCAGGGGTGGAGGGACAGGGCAGAGGGTGAGGAC (CTNS-AS1) | ||
| XR_934160.1:n.438+411_438+412insGGGCAGGGGTGGAGGGACAGGGCAGAGGGTGAGGAC (CTNS-AS1) | ||
| XR_934161.1:n.433+411_433+412insGGGCAGGGGTGGAGGGACAGGGCAGAGGGTGAGGAC (CTNS-AS1) | ||
| XR_934162.1:n.438+411_438+412insGGGCAGGGGTGGAGGGACAGGGCAGAGGGTGAGGAC (CTNS-AS1) | ||
| XR_934163.1:n.1034+411_1034+412insGGGCAGGGGTGGAGGGACAGGGCAGAGGGTGAGGAC (CTNS-AS1) | ||
| XM_005256485.3:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_005256542.1:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCC... | |
| XM_006721463.3:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_006721526.1:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCC... | |
| XM_006721464.2:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_006721527.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTG... | |
| XM_011523691.2:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_011521993.1:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCC... | |
| XM_011523692.2:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_011521994.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTG... | |
| XM_017024254.1:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_016879743.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTG... | |
| XM_017024255.1:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_016879744.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTG... | |
| XM_017024256.1:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_016879745.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTG... | |
| XM_017024257.1:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_016879746.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTG... | |
| XM_017024258.1:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | XP_016879747.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTG... | |
| XR_934158.2:n.1160+411_1160+412insGGGCAGGGGTGGAGGGACAGGGCAGAGGGTGAGGAC (CTNS-AS1) | ||
| XR_934159.2:n.450+411_450+412insGGGCAGGGGTGGAGGGACAGGGCAGAGGGTGAGGAC (CTNS-AS1) | ||
| XR_934160.2:n.455+411_455+412insGGGCAGGGGTGGAGGGACAGGGCAGAGGGTGAGGAC (CTNS-AS1) | ||
| XR_934161.2:n.450+411_450+412insGGGCAGGGGTGGAGGGACAGGGCAGAGGGTGAGGAC (CTNS-AS1) | ||
| XR_934162.3:n.455+411_455+412insGGGCAGGGGTGGAGGGACAGGGCAGAGGGTGAGGAC (CTNS-AS1) | ||
| XR_934163.2:n.1051+411_1051+412insGGGCAGGGGTGGAGGGACAGGGCAGAGGGTGAGGAC (CTNS-AS1) | ||
| NM_001374492.1:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | NP_001361421.1:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCC... | |
| NM_001374493.1:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | NP_001361422.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTG... | |
| NM_001374494.1:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | NP_001361423.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTG... | |
| NM_001374495.1:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | NP_001361424.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTG... | |
| NM_001374496.1:c.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | NP_001361425.1:n.21-40_21-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTG... | |
| NM_004937.3:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) MANE Select | NP_004928.2:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGC... | |
| NM_001031681.3:c.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCCGTC (CTNS) | NP_001026851.2:n.462-40_462-39insCTCACCCTCTGCCCTGTCCCTCCACCCC... |