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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_000003.12:g.116461763_116461764insTACGGATAATTCTTCCAGCCATGCATACCCTCAAAGTATTTTACTACAACTACTGCACGCTCAAAAGGTGGCAAGTCTGCCAGCCGCACCCTGTGCTGGGCAAGGATCGGCTGACAGAACAGGCAGAAT , CM000665.2:g.116461763_116461764insTACGGATAATTCTTCCAGCCATGCATACCCTCAAAGTATTTTACTACAACTACTGCACGCTCAAAAGGTGGCAAGTCTGCCAGCCGCACCCTGTGCTGGGCAAGGATCGGCTGACAGAACAGGCAGAAT
GRCh38
NC_000003.11:g.116180610_116180611insTACGGATAATTCTTCCAGCCATGCATACCCTCAAAGTATTTTACTACAACTACTGCACGCTCAAAAGGTGGCAAGTCTGCCAGCCGCACCCTGTGCTGGGCAAGGATCGGCTGACAGAACAGGCAGAAT , CM000665.1:g.116180610_116180611insTACGGATAATTCTTCCAGCCATGCATACCCTCAAAGTATTTTACTACAACTACTGCACGCTCAAAAGGTGGCAAGTCTGCCAGCCGCACCCTGTGCTGGGCAAGGATCGGCTGACAGAACAGGCAGAAT
GRCh37
NC_000003.10:g.117663300_117663301insTACGGATAATTCTTCCAGCCATGCATACCCTCAAAGTATTTTACTACAACTACTGCACGCTCAAAAGGTGGCAAGTCTGCCAGCCGCACCCTGTGCTGGGCAAGGATCGGCTGACAGAACAGGCAGAAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000474851.1:c.179-16809_179-16808insATTCTGCCTGTTCTGTCAGCCGATCCTTGCCCAGCACAGGGTGCGGCTGGCAGACTTGCCACCTTTTGAGCGTGCAGTAGTTGTAGTAAAATACTTTGAGGGTATGCATGGCTGGAAGAATTATCCGTA
ENSP00000418506.1:n.179-16809_179-16808insATTCTGCCTGTTCTGTCAG...