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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_000015.10:g.74755138_74755139insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG , CM000677.2:g.74755138_74755139insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG
GRCh38
NC_000015.9:g.75047479_75047480insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG , CM000677.1:g.75047479_75047480insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG
GRCh37
NC_000015.8:g.72834532_72834533insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG
NCBI36
NG_008431.1:g.37597_37598insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG
NG_008431.2:g.37597_37598insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG
NG_061543.1:g.11294_11295insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000343932.5:c.*50_*51insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG
MANE Select
ENSP00000342007.4:n.*50_*51insCTCGGGCGTCCCGTGCTCGGCGCTCCACACG...
ENST00000343932.4:c.*50_*51insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG
ENSP00000342007.4:n.*50_*51insCTCGGGCGTCCCGTGCTCGGCGCTCCACACG...
NM_000761.4:c.*50_*51insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG
NP_000752.2:n.*50_*51insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG
NM_000761.5:c.*50_*51insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG
MANE Select
NP_000752.2:n.*50_*51insCTCGGGCGTCCCGTGCTCGGCGCTCCACACGGGCAG