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_000022.11:g.19918974_19918975insATGGATGGCCGCGATTCTGGTCACCCCCAACCTCCGCCTCCCGGGTTCAAGCTTTTCTCCTGCCTCAGCCTCCCCGAGTACCTGGAGTATAGGGCAGGCGCAACCATGCCCGGCTAATTTTGTATTTGAGTAGAGATGGGATTTTCTCCAGGTTGGGCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCCGCGCGCCGCCGCCCTGGGCCTCCCAAAGTGCTGGGATTACACTGTGAGCCACAGTGCCACGGCCTATTTTTATTTTTAATTTAAAAAAAATTGTTAGGCTGAGTGTGGTGGCTCACACCGTAATGCCCAAGCACTTTTGCAGAGCCGGAGGCGGGCATAACCTGAGTCAGGAGTTCAAACAGTCTGTGGCCCAACATGGTGAAACCCTGTTCCTCTACTAAAAATACAAAAACTTAGCTCCGGTGTGGTGGCACACCCTGTAATCCCAGCTACTAAGGAAGCTGAGCCAAGAATCACGTTGAACCCGGGTGGCAGTTGGCAAGTGAGCCAAGATTGCACCACTGCACTCCACCTGGCTGACAGAGCCGGACCTCTTTCTCAATTTAAAAAAAAAACTGTGAGAATAATTTTCTCACTCTGTTGCCGCTGGGAGTGCA , CM000684.2:g.19918974_19918975insATGGATGGCCGCGATTCTGGTCACCCCCAACCTCCGCCTCCCGGGTTCAAGCTTTTCTCCTGCCTCAGCCTCCCCGAGTACCTGGAGTATAGGGCAGGCGCAACCATGCCCGGCTAATTTTGTATTTGAGTAGAGATGGGATTTTCTCCAGGTTGGGCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCCGCGCGCCGCCGCCCTGGGCCTCCCAAAGTGCTGGGATTACACTGTGAGCCACAGTGCCACGGCCTATTTTTATTTTTAATTTAAAAAAAATTGTTAGGCTGAGTGTGGTGGCTCACACCGTAATGCCCAAGCACTTTTGCAGAGCCGGAGGCGGGCATAACCTGAGTCAGGAGTTCAAACAGTCTGTGGCCCAACATGGTGAAACCCTGTTCCTCTACTAAAAATACAAAAACTTAGCTCCGGTGTGGTGGCACACCCTGTAATCCCAGCTACTAAGGAAGCTGAGCCAAGAATCACGTTGAACCCGGGTGGCAGTTGGCAAGTGAGCCAAGATTGCACCACTGCACTCCACCTGGCTGACAGAGCCGGACCTCTTTCTCAATTTAAAAAAAAAACTGTGAGAATAATTTTCTCACTCTGTTGCCGCTGGGAGTGCA | GRCh38 |
| NC_000022.10:g.19906497_19906498insATGGATGGCCGCGATTCTGGTCACCCCCAACCTCCGCCTCCCGGGTTCAAGCTTTTCTCCTGCCTCAGCCTCCCCGAGTACCTGGAGTATAGGGCAGGCGCAACCATGCCCGGCTAATTTTGTATTTGAGTAGAGATGGGATTTTCTCCAGGTTGGGCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCCGCGCGCCGCCGCCCTGGGCCTCCCAAAGTGCTGGGATTACACTGTGAGCCACAGTGCCACGGCCTATTTTTATTTTTAATTTAAAAAAAATTGTTAGGCTGAGTGTGGTGGCTCACACCGTAATGCCCAAGCACTTTTGCAGAGCCGGAGGCGGGCATAACCTGAGTCAGGAGTTCAAACAGTCTGTGGCCCAACATGGTGAAACCCTGTTCCTCTACTAAAAATACAAAAACTTAGCTCCGGTGTGGTGGCACACCCTGTAATCCCAGCTACTAAGGAAGCTGAGCCAAGAATCACGTTGAACCCGGGTGGCAGTTGGCAAGTGAGCCAAGATTGCACCACTGCACTCCACCTGGCTGACAGAGCCGGACCTCTTTCTCAATTTAAAAAAAAAACTGTGAGAATAATTTTCTCACTCTGTTGCCGCTGGGAGTGCA , CM000684.1:g.19906497_19906498insATGGATGGCCGCGATTCTGGTCACCCCCAACCTCCGCCTCCCGGGTTCAAGCTTTTCTCCTGCCTCAGCCTCCCCGAGTACCTGGAGTATAGGGCAGGCGCAACCATGCCCGGCTAATTTTGTATTTGAGTAGAGATGGGATTTTCTCCAGGTTGGGCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCCGCGCGCCGCCGCCCTGGGCCTCCCAAAGTGCTGGGATTACACTGTGAGCCACAGTGCCACGGCCTATTTTTATTTTTAATTTAAAAAAAATTGTTAGGCTGAGTGTGGTGGCTCACACCGTAATGCCCAAGCACTTTTGCAGAGCCGGAGGCGGGCATAACCTGAGTCAGGAGTTCAAACAGTCTGTGGCCCAACATGGTGAAACCCTGTTCCTCTACTAAAAATACAAAAACTTAGCTCCGGTGTGGTGGCACACCCTGTAATCCCAGCTACTAAGGAAGCTGAGCCAAGAATCACGTTGAACCCGGGTGGCAGTTGGCAAGTGAGCCAAGATTGCACCACTGCACTCCACCTGGCTGACAGAGCCGGACCTCTTTCTCAATTTAAAAAAAAAACTGTGAGAATAATTTTCTCACTCTGTTGCCGCTGGGAGTGCA | GRCh37 |
| NC_000022.9:g.18286497_18286498insATGGATGGCCGCGATTCTGGTCACCCCCAACCTCCGCCTCCCGGGTTCAAGCTTTTCTCCTGCCTCAGCCTCCCCGAGTACCTGGAGTATAGGGCAGGCGCAACCATGCCCGGCTAATTTTGTATTTGAGTAGAGATGGGATTTTCTCCAGGTTGGGCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCCGCGCGCCGCCGCCCTGGGCCTCCCAAAGTGCTGGGATTACACTGTGAGCCACAGTGCCACGGCCTATTTTTATTTTTAATTTAAAAAAAATTGTTAGGCTGAGTGTGGTGGCTCACACCGTAATGCCCAAGCACTTTTGCAGAGCCGGAGGCGGGCATAACCTGAGTCAGGAGTTCAAACAGTCTGTGGCCCAACATGGTGAAACCCTGTTCCTCTACTAAAAATACAAAAACTTAGCTCCGGTGTGGTGGCACACCCTGTAATCCCAGCTACTAAGGAAGCTGAGCCAAGAATCACGTTGAACCCGGGTGGCAGTTGGCAAGTGAGCCAAGATTGCACCACTGCACTCCACCTGGCTGACAGAGCCGGACCTCTTTCTCAATTTAAAAAAAAAACTGTGAGAATAATTTTCTCACTCTGTTGCCGCTGGGAGTGCA | NCBI36 |
| NG_011835.1:g.27863_27864insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT , LRG_417:g.27863_27864insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.260_261insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT MANE Select | ENSP00000383365.1:p.Asn88HisfsTer19 | |
| ENST00000334363.14:c.260_261insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | ENSP00000334451.9:p.Asn88HisfsTer19 | |
| ENST00000400518.5:c.170_171insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | ENSP00000383362.1:p.Asn58HisfsTer19 | |
| ENST00000400519.6:c.257_258insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | ENSP00000383363.1:p.Asn87HisfsTer19 | |
| ENST00000400521.6:c.260_261insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | ENSP00000383365.1:p.Asn88HisfsTer19 | |
| ENST00000400525.6:c.191_192insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | ENSP00000383369.3:p.Asn65HisfsTer19 | |
| ENST00000474308.5:c.203_204insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | ENSP00000485665.1:p.Asn69HisfsTer19 | |
| ENST00000491939.6:c.164_165insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | ENSP00000485543.1:p.Asn56HisfsTer19 | |
| ENST00000496729.2:n.265_266insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | ||
| ENST00000542719.6:c.-29_-28insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | ENSP00000485128.2:n.-29_-28insGCACTCCCAGCGGCAACAGAGTGAGAAAATT... | |
| NM_001282512.1:c.260_261insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | NP_001269441.1:p.Asn88HisfsTer19 | |
| NM_006440.4:c.260_261insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | NP_006431.2:p.Asn88HisfsTer19 | |
| NM_001282512.2:c.260_261insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | NP_001269441.1:p.Asn88HisfsTer19 | |
| NM_001352300.1:c.257_258insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | NP_001339229.1:p.Asn87HisfsTer19 | |
| NM_001352301.1:c.170_171insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | NP_001339230.1:p.Asn58HisfsTer19 | |
| NM_001352302.1:c.-29_-28insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | NP_001339231.1:n.-29_-28insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATT... | |
| NM_001352303.1:c.164_165insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | NP_001339232.1:p.Asn56HisfsTer19 | |
| NR_147957.1:n.392_393insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | ||
| NM_006440.5:c.260_261insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT MANE Select | NP_006431.2:p.Asn88HisfsTer19 | |
| NM_001282512.3:c.260_261insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | NP_001269441.1:p.Asn88HisfsTer19 | |
| NM_001352300.2:c.257_258insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | NP_001339229.1:p.Asn87HisfsTer19 | |
| NR_147957.2:n.218_219insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | ||
| NM_001352301.2:c.170_171insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | NP_001339230.1:p.Asn58HisfsTer19 | |
| NM_001352302.2:c.-29_-28insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | NP_001339231.1:n.-29_-28insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATT... | |
| NM_001352303.2:c.164_165insGCACTCCCAGCGGCAACAGAGTGAGAAAATTATTCTCACAGTTTTTTTTTTAAATTGAGAAAGAGGTCCGGCTCTGTCAGCCAGGTGGAGTGCAGTGGTGCAATCTTGGCTCACTTGCCAACTGCCACCCGGGTTCAACGTGATTCTTGGCTCAGCTTCCTTAGTAGCTGGGATTACAGGGTGTGCCACCACACCGGAGCTAAGTTTTTGTATTTTTAGTAGAGGAACAGGGTTTCACCATGTTGGGCCACAGACTGTTTGAACTCCTGACTCAGGTTATGCCCGCCTCCGGCTCTGCAAAAGTGCTTGGGCATTACGGTGTGAGCCACCACACTCAGCCTAACAATTTTTTTTAAATTAAAAATAAAAATAGGCCGTGGCACTGTGGCTCACAGTGTAATCCCAGCACTTTGGGAGGCCCAGGGCGGCGGCGCGCGGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGCCCAACCTGGAGAAAATCCCATCTCTACTCAAATACAAAATTAGCCGGGCATGGTTGCGCCTGCCCTATACTCCAGGTACTCGGGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGGAGGCGGAGGTTGGGGGTGACCAGAATCGCGGCCATCCATT | NP_001339232.1:p.Asn56HisfsTer19 |