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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.
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.202851_202852insACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCAGTGCTCATGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCGGTGCCCATGGCCAGCCACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCAGTGCTCATGGCCAGCC , CM000673.2:g.202851_202852insACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCAGTGCTCATGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCGGTGCCCATGGCCAGCCACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCAGTGCTCATGGCCAGCC
GRCh38
NC_000011.9:g.202851_202852insACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCAGTGCTCATGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCGGTGCCCATGGCCAGCCACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCAGTGCTCATGGCCAGCC , CM000673.1:g.202851_202852insACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCAGTGCTCATGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCGGTGCCCATGGCCAGCCACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCAGTGCTCATGGCCAGCC
GRCh37
NC_000011.8:g.192851_192852insACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCAGTGCTCATGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCGGTGCCCATGGCCAGCCACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCAGTGCTCATGGCCAGCC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000410108.5:c.168+2825_168+2826insGGCACCGGTGCTGTAAACCCTGTCCCTTCCCTCATTCACTCCGTGGCTGGCCATGAGCACTGGTGCTGTAAACCCTGTCCCTTCCCTCATTCACCCCGTGGCTGGCCATGAGCACTGGTGCTGTAAACCCTGTCCCTTCCCTCATTCACCCCGTGGCTGGCCATG
ENSP00000386558.1:n.168+2825_168+2826insGGCACCGGTGCTGTAAACCCT...