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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_000014.9:g.23431481_23431585delinsCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACG , CM000676.2:g.23431481_23431585delinsCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACG
GRCh38
NC_000014.8:g.23900690_23900794delinsCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACG , CM000676.1:g.23900690_23900794delinsCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACG
GRCh37
NC_000014.7:g.22970530_22970634delinsCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACG
NCBI36
NG_007884.1:g.9077_9181delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG , LRG_384:g.9077_9181delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355349.4:c.732_733delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG
ENST00000355349.3:c.732_733delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG
NM_000257.3:c.732_733delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG
XR_245686.3:n.838_839delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG
XM_017021340.1:c.732_733delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG
NM_000257.4:c.732_733delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG