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_000007.14:g.30631176_30631295delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC , CM000669.2:g.30631176_30631295delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | GRCh38 |
| NC_000007.13:g.30670792_30670911delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC , CM000669.1:g.30670792_30670911delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | GRCh37 |
| NC_000007.12:g.30637317_30637436delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | NCBI36 |
| NG_007942.1:g.41612_41731delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC , LRG_243:g.41612_41731delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1810-272_1810-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC MANE Select | ENSP00000373918.3:n.1810-272_1810-153delinsGCAGGTGGTAGAGACCTG... | |
| ENST00000444666.6:c.*231-272_*231-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000415447.2:n.*231-272_*231-153delinsGCAGGTGGTAGAGACCTG... | |
| ENST00000465748.2:n.1291-272_1291-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ||
| ENST00000470392.2:n.4406_4525delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ||
| ENST00000485784.2:n.4395_4514delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ||
| ENST00000496643.2:n.2633_2752delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ||
| ENST00000674616.1:c.*1524-272_*1524-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000502408.1:n.*1524-272_*1524-153delinsGCAGGTGGTAGAGACC... | |
| ENST00000674643.1:c.*910-272_*910-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000501636.1:n.*910-272_*910-153delinsGCAGGTGGTAGAGACCTG... | |
| ENST00000674737.1:c.*1148-272_*1148-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000502464.1:n.*1148-272_*1148-153delinsGCAGGTGGTAGAGACC... | |
| ENST00000674807.1:c.*83-272_*83-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000502814.1:n.*83-272_*83-153delinsGCAGGTGGTAGAGACCTGCT... | |
| ENST00000674815.1:c.1441-272_1441-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000502799.1:n.1441-272_1441-153delinsGCAGGTGGTAGAGACCTG... | |
| ENST00000674851.1:c.1441-272_1441-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000502451.1:n.1441-272_1441-153delinsGCAGGTGGTAGAGACCTG... | |
| ENST00000674969.1:n.3683-272_3683-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ||
| ENST00000675051.1:c.1609-272_1609-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000502296.1:n.1609-272_1609-153delinsGCAGGTGGTAGAGACCTG... | |
| ENST00000675529.1:c.*1680-272_*1680-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000501655.1:n.*1680-272_*1680-153delinsGCAGGTGGTAGAGACC... | |
| ENST00000675587.1:n.2642-272_2642-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ||
| ENST00000675651.1:c.1810-272_1810-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000502513.1:n.1810-272_1810-153delinsGCAGGTGGTAGAGACCTG... | |
| ENST00000675693.1:c.1642-272_1642-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000502174.1:n.1642-272_1642-153delinsGCAGGTGGTAGAGACCTG... | |
| ENST00000675810.1:c.1708-272_1708-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000502743.1:n.1708-272_1708-153delinsGCAGGTGGTAGAGACCTG... | |
| ENST00000675859.1:c.*83-1071_*83-952delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000502033.1:n.*83-1071_*83-952delinsGCAGGTGGTAGAGACCTGC... | |
| ENST00000675863.1:n.1818-272_1818-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ||
| ENST00000675886.1:n.7850-272_7850-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ||
| ENST00000676088.1:c.*1752-272_*1752-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000501884.1:n.*1752-272_*1752-153delinsGCAGGTGGTAGAGACC... | |
| ENST00000676140.1:c.*755-272_*755-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000502571.1:n.*755-272_*755-153delinsGCAGGTGGTAGAGACCTG... | |
| ENST00000676164.1:c.*1261-272_*1261-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000501986.1:n.*1261-272_*1261-153delinsGCAGGTGGTAGAGACC... | |
| ENST00000676210.1:c.*1099-272_*1099-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000502373.1:n.*1099-272_*1099-153delinsGCAGGTGGTAGAGACC... | |
| ENST00000676259.1:c.*1242-272_*1242-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000501980.1:n.*1242-272_*1242-153delinsGCAGGTGGTAGAGACC... | |
| ENST00000676403.1:c.1810-1071_1810-952delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000502681.1:n.1810-1071_1810-952delinsGCAGGTGGTAGAGACCT... | |
| ENST00000389266.7:c.1810-272_1810-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000373918.3:n.1810-272_1810-153delinsGCAGGTGGTAGAGACCTG... | |
| ENST00000444666.5:c.465-272_465-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ENSP00000415447.1:n.465-272_465-153delinsGCAGGTGGTAGAGACCTGCT... | |
| ENST00000465748.1:n.181-272_181-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ||
| ENST00000485784.1:n.28_147delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | ||
| NM_001316772.1:c.1648-272_1648-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | NP_001303701.1:n.1648-272_1648-153delinsGCAGGTGGTAGAGACCTGCTT... | |
| NM_002047.2:c.1810-272_1810-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC , LRG_243t1:c.1810-272_1810-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | NP_002038.2:n.1810-272_1810-153delinsGCAGGTGGTAGAGACCTGCTTTTT... | |
| NM_002047.3:c.1810-272_1810-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | NP_002038.2:n.1810-272_1810-153delinsGCAGGTGGTAGAGACCTGCTTTTT... | |
| XM_006715686.1:c.1441-272_1441-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | XP_006715749.1:n.1441-272_1441-153delinsGCAGGTGGTAGAGACCTGCTT... | |
| XM_006715686.2:c.1441-272_1441-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC | XP_006715749.1:n.1441-272_1441-153delinsGCAGGTGGTAGAGACCTGCTT... | |
| NM_002047.4:c.1810-272_1810-153delinsGCAGGTGGTAGAGACCTGCTTTTTAGGTGGAGAAACTAAGGTTCAGAAAGAGTTCATGACTTGGCCTAAATTCGGAGCTGAAACCAGGTGTTTCTGATGCTGGTTCTGCTTCTCTTTTGC MANE Select | NP_002038.2:n.1810-272_1810-153delinsGCAGGTGGTAGAGACCTGCTTTTT... |