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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_000023.11:g.74421756_74421780delinsAGCCCGAGCCCGTGCCAGTGCCCCC , CM000685.2:g.74421756_74421780delinsAGCCCGAGCCCGTGCCAGTGCCCCC
GRCh38
NC_000023.10:g.73641591_73641615delinsAGCCCGAGCCCGTGCCAGTGCCCCC , CM000685.1:g.73641591_73641615delinsAGCCCGAGCCCGTGCCAGTGCCCCC
GRCh37
NC_000023.9:g.73558316_73558340delinsAGCCCGAGCCCGTGCCAGTGCCCCC
NCBI36
NG_011641.1:g.5507_5531delinsAGCCCGAGCCCGTGCCAGTGCCCCC
NG_011641.2:g.5507_5531delinsAGCCCGAGCCCGTGCCAGTGCCCCC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000587091.6:c.119_143delinsAGCCCGAGCCCGTGCCAGTGCCCCC
MANE Select
ENSP00000465734.1:p.Glu40=
ENST00000587091.5:c.119_143delinsAGCCCGAGCCCGTGCCAGTGCCCCC
ENSP00000465734.1:p.Glu40=
NM_006517.4:c.119_143delinsAGCCCGAGCCCGTGCCAGTGCCCCC
NP_006508.2:p.Glu40=
XM_005262294.1:c.119_143delinsAGCCCGAGCCCGTGCCAGTGCCCCC
XP_005262351.1:p.Glu40=
XM_011531015.1:c.119_143delinsAGCCCGAGCCCGTGCCAGTGCCCCC
XP_011529317.1:p.Glu40=
NM_006517.5:c.119_143delinsAGCCCGAGCCCGTGCCAGTGCCCCC
MANE Select
NP_006508.2:p.Glu40=