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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.640181_640182insGCCCCCCGCGCCCGGCCTTCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC , CM000673.2:g.640181_640182insGCCCCCCGCGCCCGGCCTTCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC
GRCh38
NC_000011.9:g.640181_640182insGCCCCCCGCGCCCGGCCTTCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC , CM000673.1:g.640181_640182insGCCCCCCGCGCCCGGCCTTCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC
GRCh37
NC_000011.8:g.630181_630182insGCCCCCCGCGCCCGGCCTTCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC
NCBI36
NG_021241.1:g.7877_7878insGCCCCCCGCGCCCGGCCTTCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000176183.6:c.932_933insGCCCCCCGCGCCCGGCCTTCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC
MANE Select
ENSP00000176183.5:p.Ala311_Pro312insProProAlaProGlyLeuProGlnA...
ENST00000176183.5:c.932_933insGCCCCCCGCGCCCGGCCTTCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC
ENSP00000176183.5:p.Ala311_Pro312insProProAlaProGlyLeuProGlnA...
NM_000797.3:c.932_933insGCCCCCCGCGCCCGGCCTTCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC
NP_000788.2:p.Ala311_Pro312insProProAlaProGlyLeuProGlnAspProC...
NM_000797.4:c.932_933insGCCCCCCGCGCCCGGCCTTCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCAACTGTGC
MANE Select
NP_000788.2:p.Ala311_Pro312insProProAlaProGlyLeuProGlnAspProC...