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_000006.12:g.10529178_10529179insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA , CM000668.2:g.10529178_10529179insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | GRCh38 |
| NC_000006.11:g.10529411_10529412insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA , CM000668.1:g.10529411_10529412insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | GRCh37 |
| NC_000006.10:g.10637397_10637398insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | NCBI36 |
| NG_007469.3:g.41956_41957insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397423.7:n.484+337_484+338insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ||
| ENST00000483204.2:n.843_844insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ||
| ENST00000495262.7:c.267_268insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA MANE Select | ENSP00000419411.2:p.Ser89_Glu90insMetAlaSerAspGluAsnIleArgSer... | |
| ENST00000379597.7:c.267_268insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ENSP00000368917.3:p.Ser89_Glu90insMetAlaSerAspGluAsnIleArgSer... | |
| ENST00000397423.6:n.484+337_484+338insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ||
| ENST00000410107.5:c.67+20020_67+20021insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ENSP00000386321.1:n.67+20020_67+20021insATGGCATCGGATGAAAACATT... | |
| ENST00000474518.1:n.508+337_508+338insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ||
| ENST00000474983.5:n.844_845insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ||
| ENST00000475577.5:n.254+1518_254+1519insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ||
| ENST00000483204.1:n.843_844insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ||
| ENST00000489225.5:n.283+36247_283+36248insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ||
| ENST00000489819.5:n.175+7584_175+7585insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ||
| ENST00000495262.5:c.267_268insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ENSP00000419411.1:p.Ser89_Glu90insMetAlaSerAspGluAsnIleArgSer... | |
| NM_145649.4:c.267_268insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | NP_663624.1:p.Ser89_Glu90insMetAlaSerAspGluAsnIleArgSerArgTyr... | |
| XM_005248999.2:c.36_37insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | XP_005249056.1:p.Ser12_Glu13insMetAlaSerAspGluAsnIleArgSerArg... | |
| XM_006715052.2:c.267_268insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | XP_006715115.1:p.Ser89_Glu90insMetAlaSerAspGluAsnIleArgSerArg... | |
| XM_006715053.2:c.267_268insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | XP_006715116.1:p.Ser89_Glu90insMetAlaSerAspGluAsnIleArgSerArg... | |
| XM_011514465.1:c.267_268insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | XP_011512767.1:p.Ser89_Glu90insMetAlaSerAspGluAsnIleArgSerArg... | |
| XM_011514467.1:c.36_37insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | XP_011512769.1:p.Ser12_Glu13insMetAlaSerAspGluAsnIleArgSerArg... | |
| XM_011514468.1:c.267_268insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | XP_011512770.1:p.Ser89_Glu90insMetAlaSerAspGluAsnIleArgSerArg... | |
| XR_926136.1:n.818_819insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ||
| XM_006715052.3:c.267_268insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | XP_006715115.1:p.Ser89_Glu90insMetAlaSerAspGluAsnIleArgSerArg... | |
| XM_011514468.3:c.267_268insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | XP_011512770.1:p.Ser89_Glu90insMetAlaSerAspGluAsnIleArgSerArg... | |
| XM_017010732.2:c.267_268insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | XP_016866221.1:p.Ser89_Glu90insMetAlaSerAspGluAsnIleArgSerArg... | |
| XR_002956275.1:n.818_819insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ||
| XR_926136.2:n.816_817insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | ||
| NM_001374747.1:c.267_268insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA | NP_001361676.1:p.Ser89_Glu90insMetAlaSerAspGluAsnIleArgSerArg... | |
| NM_145649.5:c.267_268insATGGCATCGGATGAAAACATTCGTTCTCGTTACTTGTCGGATAAAATCCAAACGACTGCTTTGCGTGAATATTCACACTTCATTCGTAAGATTCGTATTGAGCGTTATTTGGAAGGTTCTGATAAATCA MANE Select | NP_663624.1:p.Ser89_Glu90insMetAlaSerAspGluAsnIleArgSerArgTyr... |