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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.8771444_8771445insAATGGAATCGAATGGAATGGAATGGAATGGAAAGGATACAACTCGAATGGAATGGAAAGGAATGAAATCAACCCGAGT , CM000665.2:g.8771444_8771445insAATGGAATCGAATGGAATGGAATGGAATGGAAAGGATACAACTCGAATGGAATGGAAAGGAATGAAATCAACCCGAGT
GRCh38
NC_000003.11:g.8813130_8813131insAATGGAATCGAATGGAATGGAATGGAATGGAAAGGATACAACTCGAATGGAATGGAAAGGAATGAAATCAACCCGAGT , CM000665.1:g.8813130_8813131insAATGGAATCGAATGGAATGGAATGGAATGGAAAGGATACAACTCGAATGGAATGGAAAGGAATGAAATCAACCCGAGT
GRCh37
NC_000003.10:g.8788130_8788131insAATGGAATCGAATGGAATGGAATGGAATGGAAAGGATACAACTCGAATGGAATGGAAAGGAATGAAATCAACCCGAGT
NCBI36
NG_008797.2:g.42635_42636insAATGGAATCGAATGGAATGGAATGGAATGGAAAGGATACAACTCGAATGGAATGGAAAGGAATGAAATCAACCCGAGT , LRG_329:g.42635_42636insAATGGAATCGAATGGAATGGAATGGAATGGAAAGGATACAACTCGAATGGAATGGAAAGGAATGAAATCAACCCGAGT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000472766.1:n.156-6033_156-6032insAATGGAATCGAATGGAATGGAATGGAATGGAAAGGATACAACTCGAATGGAATGGAAAGGAATGAAATCAACCCGAGT
(CAV3)
XM_011533763.1:c.-238-2854_-238-2853insACTCGGGTTGATTTCATTCCTTTCCATTCCATTCGAGTTGTATCCTTTCCATTCCATTCCATTCCATTCGATTCCATT
(OXTR)
XP_011532065.1:n.-238-2854_-238-2853insACTCGGGTTGATTTCATTCCTT...