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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_000019.10:g.615964_616021delinsGCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC , CM000681.2:g.615964_616021delinsGCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC
GRCh38
NC_000019.9:g.615964_616021delinsGCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC , CM000681.1:g.615964_616021delinsGCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC
GRCh37
NC_000019.8:g.566964_567021delinsGCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC
NCBI36
NG_023049.1:g.22548_22605delinsGCAGAAGCTCATGGCCGCCGCCTGCTGCAGCGTGGCGATGGCCGAGGTGACCTGCGGC
NG_052810.1:g.31072_31129delinsGCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000251287.3:c.2160_2217delinsGCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC
MANE Select
ENSP00000251287.1:p.Pro720=
ENST00000251287.2:c.2160_2217delinsGCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC
ENSP00000251287.1:p.Pro720=
NM_001194.3:c.2160_2217delinsGCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC
NP_001185.3:p.Pro720=
NM_001194.4:c.2160_2217delinsGCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC
MANE Select
NP_001185.3:p.Pro720=