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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_000022.11:g.50697539_50697584delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC , CM000684.2:g.50697539_50697584delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
GRCh38
NC_000022.10:g.51135967_51136012delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC , CM000684.1:g.51135967_51136012delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
GRCh37
NC_000022.9:g.49482833_49482878delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262795.7:c.948-25_968delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
ENST00000414786.7:n.1532-25_1552delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
ENST00000673971.2:c.1305-25_1325delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
ENST00000262795.6:c.948-25_968delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
ENST00000673971.1:c.1305-25_1325delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
ENST00000262795.5:c.1345-26_1364delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
ENST00000414786.6:n.1532-25_1552delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC
ENST00000445220.5:c.1326-25_1346delinsGCTGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCCC