SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6392382_6392532delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC , CM000673.2:g.6392382_6392532delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | GRCh38 |
| NC_000011.9:g.6413612_6413762delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC , CM000673.1:g.6413612_6413762delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | GRCh37 |
| NC_000011.8:g.6370188_6370338delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | NCBI36 |
| NG_011780.1:g.6958_7108delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1091+226_1091+376delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC MANE Select | ENSP00000340409.4:n.1091+226_1091+376delinsATGTTGCCCAGGCTGGTC... | |
| ENST00000342245.8:c.1091+226_1091+376delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | ENSP00000340409.4:n.1091+226_1091+376delinsATGTTGCCCAGGCTGGTC... | |
| ENST00000526280.1:c.320+186_320+336delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | ||
| ENST00000527275.5:c.1088+226_1088+376delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | ENSP00000435350.1:n.1088+226_1088+376delinsATGTTGCCCAGGCTGGTC... | |
| ENST00000531303.5:c.439-834_439-684delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | ENSP00000432625.1:n.439-834_439-684delinsATGTTGCCCAGGCTGGTCTC... | |
| ENST00000533123.5:c.1091+226_1091+376delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | ENSP00000435950.1:n.1091+226_1091+376delinsATGTTGCCCAGGCTGGTC... | |
| ENST00000534405.5:c.1131+186_1131+336delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | ENSP00000434353.1:n.1131+186_1131+336delinsATGTTGCCCAGGCTGGTC... | |
| NM_000543.4:c.1091+226_1091+376delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | NP_000534.3:n.1091+226_1091+376delinsATGTTGCCCAGGCTGGTCTCAAAC... | |
| NM_001007593.2:c.1088+226_1088+376delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | NP_001007594.2:n.1088+226_1088+376delinsATGTTGCCCAGGCTGGTCTCA... | |
| XM_005253075.3:c.1091+226_1091+376delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | XP_005253132.1:n.1091+226_1091+376delinsATGTTGCCCAGGCTGGTCTCA... | |
| XM_011520303.1:c.1131+186_1131+336delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | XP_011518605.1:n.1131+186_1131+336delinsATGTTGCCCAGGCTGGTCTCA... | |
| XM_011520304.1:c.1131+186_1131+336delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | XP_011518606.1:n.1131+186_1131+336delinsATGTTGCCCAGGCTGGTCTCA... | |
| XR_930886.1:n.1429+186_1429+336delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | ||
| NM_001318087.1:c.1091+226_1091+376delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | NP_001305016.1:n.1091+226_1091+376delinsATGTTGCCCAGGCTGGTCTCA... | |
| NM_001318088.1:c.170+186_170+336delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | NP_001305017.1:n.170+186_170+336delinsATGTTGCCCAGGCTGGTCTCAAA... | |
| NM_001365135.1:c.1131+186_1131+336delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | NP_001352064.1:n.1131+186_1131+336delinsATGTTGCCCAGGCTGGTCTCA... | |
| NR_027400.2:n.1276+226_1276+376delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | ||
| NR_134502.1:n.624-834_624-684delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | ||
| XM_011520304.2:c.1131+186_1131+336delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | XP_011518606.1:n.1131+186_1131+336delinsATGTTGCCCAGGCTGGTCTCA... | |
| XR_001747940.2:n.1256+186_1256+336delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | ||
| XR_002957158.1:n.1256+186_1256+336delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | ||
| NM_000543.5:c.1091+226_1091+376delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC MANE Select | NP_000534.3:n.1091+226_1091+376delinsATGTTGCCCAGGCTGGTCTCAAAC... | |
| NM_001007593.3:c.1088+226_1088+376delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | NP_001007594.2:n.1088+226_1088+376delinsATGTTGCCCAGGCTGGTCTCA... | |
| NM_001318087.2:c.1091+226_1091+376delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | NP_001305016.1:n.1091+226_1091+376delinsATGTTGCCCAGGCTGGTCTCA... | |
| NM_001318088.2:c.170+186_170+336delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | NP_001305017.1:n.170+186_170+336delinsATGTTGCCCAGGCTGGTCTCAAA... | |
| NM_001365135.2:c.1131+186_1131+336delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | NP_001352064.1:n.1131+186_1131+336delinsATGTTGCCCAGGCTGGTCTCA... | |
| NR_027400.3:n.1216+226_1216+376delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC | ||
| NR_134502.2:n.564-834_564-684delinsATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCTC |