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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_000001.11:g.207453865_207453866insTGGCACTCGGAACGGGTGTCGGTCTGCGTTATGACCTTGGCTATTTCATGGTGCGTCTCGACTGGGGTTTCGGTCTGCATGTCCCTTATTCAACGG , CM000663.2:g.207453865_207453866insTGGCACTCGGAACGGGTGTCGGTCTGCGTTATGACCTTGGCTATTTCATGGTGCGTCTCGACTGGGGTTTCGGTCTGCATGTCCCTTATTCAACGG
GRCh38
NC_000001.10:g.207627210_207627211insTGGCACTCGGAACGGGTGTCGGTCTGCGTTATGACCTTGGCTATTTCATGGTGCGTCTCGACTGGGGTTTCGGTCTGCATGTCCCTTATTCAACGG , CM000663.1:g.207627210_207627211insTGGCACTCGGAACGGGTGTCGGTCTGCGTTATGACCTTGGCTATTTCATGGTGCGTCTCGACTGGGGTTTCGGTCTGCATGTCCCTTATTCAACGG
GRCh37
NC_000001.9:g.205693833_205693834insTGGCACTCGGAACGGGTGTCGGTCTGCGTTATGACCTTGGCTATTTCATGGTGCGTCTCGACTGGGGTTTCGGTCTGCATGTCCCTTATTCAACGG
NCBI36
NG_013006.1:g.4566_4567insTGGCACTCGGAACGGGTGTCGGTCTGCGTTATGACCTTGGCTATTTCATGGTGCGTCTCGACTGGGGTTTCGGTCTGCATGTCCCTTATTCAACGG , LRG_348:g.4566_4567insTGGCACTCGGAACGGGTGTCGGTCTGCGTTATGACCTTGGCTATTTCATGGTGCGTCTCGACTGGGGTTTCGGTCTGCATGTCCCTTATTCAACGG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000699640.1:c.-385+770_-385+771insTGGCACTCGGAACGGGTGTCGGTCTGCGTTATGACCTTGGCTATTTCATGGTGCGTCTCGACTGGGGTTTCGGTCTGCATGTCCCTTATTCAACGG
ENSP00000514493.1:n.-385+770_-385+771insTGGCACTCGGAACGGGTGTCG...