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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.87419243_87419337delinsGGGGCAGGCCACTTGAGTAGAATTCATGCCTTTGGGGAGAAAAAAGAATAAGGTGGCTGGCCAGGGGTCTATCCCTTCTAGATCTCCATTGTCTT , CM000677.2:g.87419243_87419337delinsGGGGCAGGCCACTTGAGTAGAATTCATGCCTTTGGGGAGAAAAAAGAATAAGGTGGCTGGCCAGGGGTCTATCCCTTCTAGATCTCCATTGTCTT
GRCh38
NC_000015.9:g.87962474_87962568delinsGGGGCAGGCCACTTGAGTAGAATTCATGCCTTTGGGGAGAAAAAAGAATAAGGTGGCTGGCCAGGGGTCTATCCCTTCTAGATCTCCATTGTCTT , CM000677.1:g.87962474_87962568delinsGGGGCAGGCCACTTGAGTAGAATTCATGCCTTTGGGGAGAAAAAAGAATAAGGTGGCTGGCCAGGGGTCTATCCCTTCTAGATCTCCATTGTCTT
GRCh37
NC_000015.8:g.85763478_85763572delinsGGGGCAGGCCACTTGAGTAGAATTCATGCCTTTGGGGAGAAAAAAGAATAAGGTGGCTGGCCAGGGGTCTATCCCTTCTAGATCTCCATTGTCTT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_932584.1:n.340-66_368delinsAAGACAATGGAGATCTAGAAGGGATAGACCCCTGGCCAGCCACCTTATTCTTTTTTCTCCCCAAAGGCATGAATTCTACTCAAGTGGCCTGCCCC
XR_932585.1:n.340-66_368delinsAAGACAATGGAGATCTAGAAGGGATAGACCCCTGGCCAGCCACCTTATTCTTTTTTCTCCCCAAAGGCATGAATTCTACTCAAGTGGCCTGCCCC
XR_001751647.1:n.617-66_645delinsAAGACAATGGAGATCTAGAAGGGATAGACCCCTGGCCAGCCACCTTATTCTTTTTTCTCCCCAAAGGCATGAATTCTACTCAAGTGGCCTGCCCC
XR_932585.2:n.627-66_655delinsAAGACAATGGAGATCTAGAAGGGATAGACCCCTGGCCAGCCACCTTATTCTTTTTTCTCCCCAAAGGCATGAATTCTACTCAAGTGGCCTGCCCC