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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.28767677_28767729delinsGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC , CM000676.2:g.28767677_28767729delinsGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC
GRCh38
NC_000014.8:g.29236883_29236935delinsGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC , CM000676.1:g.29236883_29236935delinsGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC
GRCh37
NC_000014.7:g.28306634_28306686delinsGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC
NCBI36
NG_009367.1:g.5597_5649delinsGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000706482.1:c.398_450delinsGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC
ENSP00000516406.1:p.Gly133=
ENST00000313071.7:c.398_450delinsGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC
MANE Select
ENSP00000339004.3:p.Gly133=
ENST00000313071.6:c.398_450delinsGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC
ENSP00000339004.3:p.Gly133=
NM_005249.4:c.398_450delinsGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC
NP_005240.3:p.Gly133=
NM_005249.5:c.398_450delinsGGCCGGGGGAGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGC
MANE Select
NP_005240.3:p.Gly133=