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_000001.11:g.201365611_201365614delinsCTCTCTCTCCATCGGGGATGGAGAG , CM000663.2:g.201365611_201365614delinsCTCTCTCTCCATCGGGGATGGAGAG | GRCh38 |
| NC_000001.10:g.201334739_201334742delinsCTCTCTCTCCATCGGGGATGGAGAG , CM000663.1:g.201334739_201334742delinsCTCTCTCTCCATCGGGGATGGAGAG | GRCh37 |
| NC_000001.9:g.199601362_199601365delinsCTCTCTCTCCATCGGGGATGGAGAG | NCBI36 |
| NG_007556.1:g.17064_17067delinsCTCTCCATCCCCGATGGAGAGAGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455702.7:c.275_278delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000402238.3:p.Phe92_Asp93delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000367318.10:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000356287.5:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000367322.6:c.257_260delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000356291.2:p.Phe86_Asp87delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000412633.3:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000408731.2:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000422165.6:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000395163.2:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000438742.6:c.242_245delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000414036.2:p.Phe81_Asp82delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000455702.6:c.275_278delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000402238.2:p.Phe92_Asp93delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000651504.1:n.754_757delinsCTCTCCATCCCCGATGGAGAGAGAG | ||
| ENST00000656932.1:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG MANE Select | ENSP00000499593.1:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000658476.1:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000499741.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000660295.1:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000499418.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000662159.1:c.162+2164_162+2167delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000499796.1:n.162+2164_162+2167delinsCTCTCCATCCCCGATGGA... | |
| ENST00000663843.1:c.*190_*193delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000499590.1:n.*190_*193delinsCTCTCCATCCCCGATGGAGAGAGAG | |
| ENST00000666449.1:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000499667.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000236918.11:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000236918.8:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000360372.8:c.287_290delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000353535.5:p.Phe96_Asp97delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000367315.6:c.266_269delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000356284.3:p.Phe89_Asp90delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000367317.8:c.245_248delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000356286.5:p.Phe82_Asp83delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000367318.9:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000356287.5:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000367320.6:c.287_290delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000356289.2:p.Phe96_Asp97delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000367322.5:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000356291.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000412633.2:c.257_260delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000408731.1:p.Phe86_Asp87delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000421663.6:c.83_86delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000404134.3:p.Phe28_Asp29delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000422165.5:c.275_278delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000395163.1:p.Phe92_Asp93delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000438742.5:c.245_248delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000414036.1:p.Phe82_Asp83delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000455702.5:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000402238.1:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000458432.6:c.83_86delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000387874.3:p.Phe28_Asp29delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000466570.5:n.516_519delinsCTCTCCATCCCCGATGGAGAGAGAG | ||
| ENST00000491504.5:n.1499_1502delinsCTCTCCATCCCCGATGGAGAGAGAG | ||
| ENST00000503459.1:n.129_132delinsCTCTCCATCCCCGATGGAGAGAGAG | ||
| ENST00000509001.5:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | ENSP00000422031.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGlu... | |
| ENST00000515042.5:n.186_189delinsCTCTCCATCCCCGATGGAGAGAGAG | ||
| NM_000364.3:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG | NP_000355.2:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer | |
| NM_001001430.2:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | NP_001001430.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGluSer... | |
| NM_001001431.2:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | NP_001001431.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGluSer... | |
| NM_001001432.2:c.245_248delinsCTCTCCATCCCCGATGGAGAGAGAG | NP_001001432.1:p.Phe82_Asp83delinsSerLeuHisProArgTrpArgGluSer... | |
| NM_001276345.1:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG | NP_001263274.1:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer... | |
| NM_001276346.1:c.287_290delinsCTCTCCATCCCCGATGGAGAGAGAG | NP_001263275.1:p.Phe96_Asp97delinsSerLeuHisProArgTrpArgGluSer... | |
| NM_001276347.1:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | NP_001263276.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_006711508.2:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_006711571.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_006711509.2:c.257_260delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_006711572.1:p.Phe86_Asp87delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509938.1:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508240.1:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509939.1:c.287_290delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508241.1:p.Phe96_Asp97delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509940.1:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508242.1:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509941.1:c.287_290delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508243.1:p.Phe96_Asp97delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509942.1:c.245_248delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508244.1:p.Phe82_Asp83delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509943.1:c.245_248delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508245.1:p.Phe82_Asp83delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509944.1:c.242_245delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508246.1:p.Phe81_Asp82delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509945.1:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508247.1:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509946.1:c.83_86delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508248.1:p.Phe28_Asp29delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_006711508.3:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_006711571.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_006711509.3:c.257_260delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_006711572.1:p.Phe86_Asp87delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509938.2:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508240.1:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509940.2:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508242.1:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509941.2:c.287_290delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508243.1:p.Phe96_Asp97delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509942.2:c.245_248delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508244.1:p.Phe82_Asp83delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509943.2:c.245_248delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508245.1:p.Phe82_Asp83delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_011509944.2:c.242_245delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_011508246.1:p.Phe81_Asp82delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_017002216.2:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_016857705.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_017002217.1:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_016857706.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_024449450.1:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_024305218.1:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_024449454.1:c.257_260delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_024305222.1:p.Phe86_Asp87delinsSerLeuHisProArgTrpArgGluSer... | |
| XM_024449455.1:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | XP_024305223.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGluSer... | |
| NM_000364.4:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG | NP_000355.2:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer | |
| NM_001001430.3:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | NP_001001430.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGluSer... | |
| NM_001001431.3:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | NP_001001431.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGluSer... | |
| NM_001001432.3:c.245_248delinsCTCTCCATCCCCGATGGAGAGAGAG | NP_001001432.1:p.Phe82_Asp83delinsSerLeuHisProArgTrpArgGluSer... | |
| NM_001276345.2:c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG MANE Select | NP_001263274.1:p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer... | |
| NM_001276346.2:c.287_290delinsCTCTCCATCCCCGATGGAGAGAGAG | NP_001263275.1:p.Phe96_Asp97delinsSerLeuHisProArgTrpArgGluSer... | |
| NM_001276347.2:c.260_263delinsCTCTCCATCCCCGATGGAGAGAGAG | NP_001263276.1:p.Phe87_Asp88delinsSerLeuHisProArgTrpArgGluSer... |