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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_000017.11:g.41584417_41584418insTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTC , CM000679.2:g.41584417_41584418insTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTC
GRCh38
NC_000017.10:g.39740669_39740670insTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTC , CM000679.1:g.39740669_39740670insTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTC
GRCh37
NC_000017.9:g.36994195_36994196insTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTC
NCBI36
NG_008624.1:g.7478_7479insGACAATGCCCGTCTGGCCGCGGATGACTTCCGCA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000167586.7:c.609-5_609-4insGACAATGCCCGTCTGGCCGCGGATGACTTCCGCA
MANE Select
ENSP00000167586.6:n.609-5_609-4insGACAATGCCCGTCTGGCCGCGGATGAC...
ENST00000167586.6:c.609-5_609-4insGACAATGCCCGTCTGGCCGCGGATGACTTCCGCA
ENSP00000167586.6:n.609-5_609-4insGACAATGCCCGTCTGGCCGCGGATGAC...
ENST00000476662.1:n.54_55insGACAATGCCCGTCTGGCCGCGGATGACTTCCGCA
NM_000526.4:c.609-5_609-4insGACAATGCCCGTCTGGCCGCGGATGACTTCCGCA
NP_000517.2:n.609-5_609-4insGACAATGCCCGTCTGGCCGCGGATGACTTCCGC...
NM_000526.5:c.609-5_609-4insGACAATGCCCGTCTGGCCGCGGATGACTTCCGCA
MANE Select
NP_000517.3:n.609-5_609-4insGACAATGCCCGTCTGGCCGCGGATGACTTCCGC...