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.44147947_44147948insCGACTTATATTCCCGATTCGTTAGATATATGTTTTCTATTCCTTAGATGTGTATCTTTGGTTTGTTAGATATATGTCTTCCATTCATTAGATGTATGTCTTCTATTCGTTAGATGTGCGTCTTTGATTCG , CM000669.2:g.44147947_44147948insCGACTTATATTCCCGATTCGTTAGATATATGTTTTCTATTCCTTAGATGTGTATCTTTGGTTTGTTAGATATATGTCTTCCATTCATTAGATGTATGTCTTCTATTCGTTAGATGTGCGTCTTTGATTCG | GRCh38 |
| NC_000007.13:g.44187546_44187547insCGACTTATATTCCCGATTCGTTAGATATATGTTTTCTATTCCTTAGATGTGTATCTTTGGTTTGTTAGATATATGTCTTCCATTCATTAGATGTATGTCTTCTATTCGTTAGATGTGCGTCTTTGATTCG , CM000669.1:g.44187546_44187547insCGACTTATATTCCCGATTCGTTAGATATATGTTTTCTATTCCTTAGATGTGTATCTTTGGTTTGTTAGATATATGTCTTCCATTCATTAGATGTATGTCTTCTATTCGTTAGATGTGCGTCTTTGATTCG | GRCh37 |
| NC_000007.12:g.44154071_44154072insCGACTTATATTCCCGATTCGTTAGATATATGTTTTCTATTCCTTAGATGTGTATCTTTGGTTTGTTAGATATATGTCTTCCATTCATTAGATGTATGTCTTCTATTCGTTAGATGTGCGTCTTTGATTCG | NCBI36 |
| NG_008847.1:g.46476_46477insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | |
| NG_008847.2:g.55223_55224insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*678-115_*678-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | ENSP00000379142.4:n.*678-115_*678-114insCGAATCAAAGACGCACATCTA... | |
| ENST00000616242.5:c.680-115_680-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | ENSP00000482149.2:n.680-115_680-114insCGAATCAAAGACGCACATCTAAC... | |
| ENST00000345378.7:c.683-115_683-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | ENSP00000223366.2:n.683-115_683-114insCGAATCAAAGACGCACATCTAAC... | |
| ENST00000403799.8:c.680-115_680-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG MANE Select | ENSP00000384247.3:n.680-115_680-114insCGAATCAAAGACGCACATCTAAC... | |
| ENST00000671824.1:c.680-115_680-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | ENSP00000500264.1:n.680-115_680-114insCGAATCAAAGACGCACATCTAAC... | |
| ENST00000673284.1:c.680-115_680-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | ENSP00000499852.1:n.680-115_680-114insCGAATCAAAGACGCACATCTAAC... | |
| ENST00000345378.6:c.683-115_683-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | ENSP00000223366.2:n.683-115_683-114insCGAATCAAAGACGCACATCTAAC... | |
| ENST00000395796.7:c.677-115_677-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | ENSP00000379142.3:n.677-115_677-114insCGAATCAAAGACGCACATCTAAC... | |
| ENST00000403799.7:c.680-115_680-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | ENSP00000384247.3:n.680-115_680-114insCGAATCAAAGACGCACATCTAAC... | |
| ENST00000437084.1:c.629-115_629-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | ENSP00000402840.1:n.629-115_629-114insCGAATCAAAGACGCACATCTAAC... | |
| ENST00000616242.4:c.677-115_677-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | ENSP00000482149.1:n.677-115_677-114insCGAATCAAAGACGCACATCTAAC... | |
| NM_000162.3:c.680-115_680-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | NP_000153.1:n.680-115_680-114insCGAATCAAAGACGCACATCTAACGAATAG... | |
| NM_033507.1:c.683-115_683-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | NP_277042.1:n.683-115_683-114insCGAATCAAAGACGCACATCTAACGAATAG... | |
| NM_033508.1:c.677-115_677-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | NP_277043.1:n.677-115_677-114insCGAATCAAAGACGCACATCTAACGAATAG... | |
| XR_927223.1:n.82+199_82+200insCGACTTATATTCCCGATTCGTTAGATATATGTTTTCTATTCCTTAGATGTGTATCTTTGGTTTGTTAGATATATGTCTTCCATTCATTAGATGTATGTCTTCTATTCGTTAGATGTGCGTCTTTGATTCG | ||
| NM_000162.4:c.680-115_680-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | NP_000153.1:n.680-115_680-114insCGAATCAAAGACGCACATCTAACGAATAG... | |
| NM_001354800.1:c.680-115_680-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | NP_001341729.1:n.680-115_680-114insCGAATCAAAGACGCACATCTAACGAA... | |
| NM_033507.2:c.683-115_683-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | NP_277042.1:n.683-115_683-114insCGAATCAAAGACGCACATCTAACGAATAG... | |
| NM_033508.2:c.677-115_677-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | NP_277043.1:n.677-115_677-114insCGAATCAAAGACGCACATCTAACGAATAG... | |
| XR_927223.2:n.82+199_82+200insCGACTTATATTCCCGATTCGTTAGATATATGTTTTCTATTCCTTAGATGTGTATCTTTGGTTTGTTAGATATATGTCTTCCATTCATTAGATGTATGTCTTCTATTCGTTAGATGTGCGTCTTTGATTCG | ||
| NM_000162.5:c.680-115_680-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG MANE Select | NP_000153.1:n.680-115_680-114insCGAATCAAAGACGCACATCTAACGAATAG... | |
| NM_033507.3:c.683-115_683-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | NP_277042.1:n.683-115_683-114insCGAATCAAAGACGCACATCTAACGAATAG... | |
| NM_033508.3:c.677-115_677-114insCGAATCAAAGACGCACATCTAACGAATAGAAGACATACATCTAATGAATGGAAGACATATATCTAACAAACCAAAGATACACATCTAAGGAATAGAAAACATATATCTAACGAATCGGGAATATAAGTCG | NP_277043.1:n.677-115_677-114insCGAATCAAAGACGCACATCTAACGAATAG... |