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_000014.9:g.91234215_91234665delinsCAGTTGAAGCTGGTGAGCAGGAGGGAGAAGTGGTAGGCGTTGAAAACGCCCTTGGCGAAGTCGCAGCTGGCCTCCCAGACGCTGCGCACCAGCAGCAACACGTGGTAGGGCAGGAAGCAGGCCAGGAAGATGACCACGGTGCTGAGCACCAGCCGCTGGATCTGGTCCTTGCGGCTCTTCTGGGTGCCGTGGCTCCGGCGCACGGCGCGCAGGATGCCCTGGTAGGACGCCAGCAGCAGGCAGATGGGGAAGAGGAAGCCCACCAGGAAGCGGTAGTAGTTGATGGCGCGCTGCCATGCCTGGATGGGGTAGTGCTCAAAGCACACGCGGTGCTGGTTCTCGTCCTCGATGACCTCCTCGTGCATCAGGAAGTAGATGCTGGTCAGCAGCTCCTTGGCCCAGATGACCACGCTGACGCCGACGGCCGCCTTCAGGGTCCGGAACTGGTGGA , CM000676.2:g.91234215_91234665delinsCAGTTGAAGCTGGTGAGCAGGAGGGAGAAGTGGTAGGCGTTGAAAACGCCCTTGGCGAAGTCGCAGCTGGCCTCCCAGACGCTGCGCACCAGCAGCAACACGTGGTAGGGCAGGAAGCAGGCCAGGAAGATGACCACGGTGCTGAGCACCAGCCGCTGGATCTGGTCCTTGCGGCTCTTCTGGGTGCCGTGGCTCCGGCGCACGGCGCGCAGGATGCCCTGGTAGGACGCCAGCAGCAGGCAGATGGGGAAGAGGAAGCCCACCAGGAAGCGGTAGTAGTTGATGGCGCGCTGCCATGCCTGGATGGGGTAGTGCTCAAAGCACACGCGGTGCTGGTTCTCGTCCTCGATGACCTCCTCGTGCATCAGGAAGTAGATGCTGGTCAGCAGCTCCTTGGCCCAGATGACCACGCTGACGCCGACGGCCGCCTTCAGGGTCCGGAACTGGTGGA | GRCh38 |
| NC_000014.8:g.91700559_91701009delinsCAGTTGAAGCTGGTGAGCAGGAGGGAGAAGTGGTAGGCGTTGAAAACGCCCTTGGCGAAGTCGCAGCTGGCCTCCCAGACGCTGCGCACCAGCAGCAACACGTGGTAGGGCAGGAAGCAGGCCAGGAAGATGACCACGGTGCTGAGCACCAGCCGCTGGATCTGGTCCTTGCGGCTCTTCTGGGTGCCGTGGCTCCGGCGCACGGCGCGCAGGATGCCCTGGTAGGACGCCAGCAGCAGGCAGATGGGGAAGAGGAAGCCCACCAGGAAGCGGTAGTAGTTGATGGCGCGCTGCCATGCCTGGATGGGGTAGTGCTCAAAGCACACGCGGTGCTGGTTCTCGTCCTCGATGACCTCCTCGTGCATCAGGAAGTAGATGCTGGTCAGCAGCTCCTTGGCCCAGATGACCACGCTGACGCCGACGGCCGCCTTCAGGGTCCGGAACTGGTGGA , CM000676.1:g.91700559_91701009delinsCAGTTGAAGCTGGTGAGCAGGAGGGAGAAGTGGTAGGCGTTGAAAACGCCCTTGGCGAAGTCGCAGCTGGCCTCCCAGACGCTGCGCACCAGCAGCAACACGTGGTAGGGCAGGAAGCAGGCCAGGAAGATGACCACGGTGCTGAGCACCAGCCGCTGGATCTGGTCCTTGCGGCTCTTCTGGGTGCCGTGGCTCCGGCGCACGGCGCGCAGGATGCCCTGGTAGGACGCCAGCAGCAGGCAGATGGGGAAGAGGAAGCCCACCAGGAAGCGGTAGTAGTTGATGGCGCGCTGCCATGCCTGGATGGGGTAGTGCTCAAAGCACACGCGGTGCTGGTTCTCGTCCTCGATGACCTCCTCGTGCATCAGGAAGTAGATGCTGGTCAGCAGCTCCTTGGCCCAGATGACCACGCTGACGCCGACGGCCGCCTTCAGGGTCCGGAACTGGTGGA | GRCh37 |
| NC_000014.7:g.90770312_90770762delinsCAGTTGAAGCTGGTGAGCAGGAGGGAGAAGTGGTAGGCGTTGAAAACGCCCTTGGCGAAGTCGCAGCTGGCCTCCCAGACGCTGCGCACCAGCAGCAACACGTGGTAGGGCAGGAAGCAGGCCAGGAAGATGACCACGGTGCTGAGCACCAGCCGCTGGATCTGGTCCTTGCGGCTCTTCTGGGTGCCGTGGCTCCGGCGCACGGCGCGCAGGATGCCCTGGTAGGACGCCAGCAGCAGGCAGATGGGGAAGAGGAAGCCCACCAGGAAGCGGTAGTAGTTGATGGCGCGCTGCCATGCCTGGATGGGGTAGTGCTCAAAGCACACGCGGTGCTGGTTCTCGTCCTCGATGACCTCCTCGTGCATCAGGAAGTAGATGCTGGTCAGCAGCTCCTTGGCCCAGATGACCACGCTGACGCCGACGGCCGCCTTCAGGGTCCGGAACTGGTGGA | NCBI36 |
| NG_052988.1:g.24216_24666delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650645.1:c.386_836delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG MANE Select | ENSP00000498702.1:p.Phe129= | |
| ENST00000529102.1:c.386_836delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | ENSP00000432740.1:p.Phe129= | |
| ENST00000531499.2:c.386_836delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | ENSP00000434045.2:p.Phe129= | |
| ENST00000535815.5:c.386_836delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | ENSP00000440797.1:p.Phe129= | |
| NM_001177676.1:c.386_836delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | NP_001171147.1:p.Phe129= | |
| NM_003485.3:c.386_836delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | NP_003476.3:p.Phe129= | |
| XM_005268110.3:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_005268167.1:p.Phe139= | |
| XM_005268111.2:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_005268168.1:p.Phe139= | |
| XM_005268112.2:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_005268169.1:p.Phe139= | |
| XM_006720262.2:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_006720325.1:p.Phe139= | |
| XM_011537196.1:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_011535498.1:p.Phe139= | |
| XM_011537197.1:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_011535499.1:p.Phe139= | |
| XM_011537198.1:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_011535500.1:p.Phe139= | |
| XM_011537199.1:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_011535501.1:p.Phe139= | |
| XM_011537200.1:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_011535502.1:p.Phe139= | |
| NM_001348437.1:c.386_836delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | NP_001335366.1:p.Phe129= | |
| XM_005268110.4:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_005268167.1:p.Phe139= | |
| XM_005268111.3:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_005268168.1:p.Phe139= | |
| XM_005268112.3:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_005268169.1:p.Phe139= | |
| XM_006720262.3:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_006720325.1:p.Phe139= | |
| XM_011537196.2:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_011535498.1:p.Phe139= | |
| XM_011537197.3:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_011535499.1:p.Phe139= | |
| XM_011537198.2:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_011535500.1:p.Phe139= | |
| XM_011537199.2:c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG | XP_011535501.1:p.Phe139= | |
| NM_001177676.2:c.386_836delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG MANE Select | NP_001171147.1:p.Phe129= |