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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_000003.12:g.138945851_138945883delinsTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGC , CM000665.2:g.138945851_138945883delinsTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGC
GRCh38
NC_000003.11:g.138664693_138664725delinsTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGC , CM000665.1:g.138664693_138664725delinsTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGC
GRCh37
NC_000003.10:g.140147383_140147415delinsTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGC
NCBI36
NG_012454.1:g.6258_6290delinsGCCGGCCGCACCCCCGCCTCCGCCGCACCCCCA
NG_029796.1:g.3618_3650delinsTGGGGGTGCGGCGGAGGCGGGGGTGCGGCCGGC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648323.1:c.840_872delinsGCCGGCCGCACCCCCGCCTCCGCCGCACCCCCA
MANE Select
ENSP00000497217.1:p.Pro280=
ENST00000330315.3:c.840_872delinsGCCGGCCGCACCCCCGCCTCCGCCGCACCCCCA
ENSP00000333188.3:p.Pro280=
NM_023067.3:c.840_872delinsGCCGGCCGCACCCCCGCCTCCGCCGCACCCCCA
NP_075555.1:p.Pro280=
NM_023067.4:c.840_872delinsGCCGGCCGCACCCCCGCCTCCGCCGCACCCCCA
MANE Select
NP_075555.1:p.Pro280=