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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_000012.12:g.52651844_52651845insCACCTCCAAAGCCGCTGCCGCCTCCAAAGCCGC , CM000674.2:g.52651844_52651845insCACCTCCAAAGCCGCTGCCGCCTCCAAAGCCGC
GRCh38
NC_000012.11:g.53045628_53045629insCACCTCCAAAGCCGCTGCCGCCTCCAAAGCCGC , CM000674.1:g.53045628_53045629insCACCTCCAAAGCCGCTGCCGCCTCCAAAGCCGC
GRCh37
NC_000012.10:g.51331895_51331896insCACCTCCAAAGCCGCTGCCGCCTCCAAAGCCGC
NCBI36
NG_008296.1:g.5333_5334insGGCTTTGGAGGCGGCAGCGGCTTTGGAGGTGGC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000309680.4:c.300_301insGGCTTTGGAGGCGGCAGCGGCTTTGGAGGTGGC
MANE Select
ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGlySerGlyPheG...
ENST00000309680.3:c.300_301insGGCTTTGGAGGCGGCAGCGGCTTTGGAGGTGGC
ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGlySerGlyPheG...
NM_000423.2:c.300_301insGGCTTTGGAGGCGGCAGCGGCTTTGGAGGTGGC
NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGlySerGlyPheGlyGlyG...
NM_000423.3:c.300_301insGGCTTTGGAGGCGGCAGCGGCTTTGGAGGTGGC
MANE Select
NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGlySerGlyPheGlyGlyG...