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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.52675417_52675459delinsCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCT , CM000674.2:g.52675417_52675459delinsCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCT
GRCh38
NC_000012.11:g.53069201_53069243delinsCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCT , CM000674.1:g.53069201_53069243delinsCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCT
GRCh37
NC_000012.10:g.51355468_51355510delinsCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCT
NCBI36
NG_008364.1:g.9949_9991delinsAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTG
NG_008364.2:g.9949_9991delinsAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000252244.3:c.1669_1711delinsAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTG
MANE Select
ENSP00000252244.3:p.Ser557=
NM_006121.3:c.1669_1711delinsAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTG
NP_006112.3:p.Ser557=
NM_006121.4:c.1669_1711delinsAGCAGCTACGGCTCCGGAGGTGGCAGCTATGGCTCTGGAGGTG
MANE Select
NP_006112.3:p.Ser557=