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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_000010.11:g.122458389_122458390insGAGAAAGAGCAACGCTAGGGAAGAATCTAAAAGAGAGA , CM000672.2:g.122458389_122458390insGAGAAAGAGCAACGCTAGGGAAGAATCTAAAAGAGAGA
GRCh38
NC_000010.10:g.124217905_124217906insGAGAAAGAGCAACGCTAGGGAAGAATCTAAAAGAGAGA , CM000672.1:g.124217905_124217906insGAGAAAGAGCAACGCTAGGGAAGAATCTAAAAGAGAGA
GRCh37
NC_000010.9:g.124207895_124207896insGAGAAAGAGCAACGCTAGGGAAGAATCTAAAAGAGAGA
NCBI36
NG_011554.1:g.1865_1866insGAGAAAGAGCAACGCTAGGGAAGAATCTAAAAGAGAGA
NG_011725.1:g.8727_8728insGAGAAAGAGCAACGCTAGGGAAGAATCTAAAAGAGAGA
Transcript Alleles
HGVS
Amino-acid Change
XR_946382.1:n.1827+108_1827+109insCTCTTTTAGATTCTTCCCTAGCGTTGCTCTTTCTCTCT
XR_946383.1:n.1827+108_1827+109insCTCTTTTAGATTCTTCCCTAGCGTTGCTCTTTCTCTCT
XR_946384.1:n.1576+108_1576+109insCTCTTTTAGATTCTTCCCTAGCGTTGCTCTTTCTCTCT
XR_946385.1:n.1827+108_1827+109insCTCTTTTAGATTCTTCCCTAGCGTTGCTCTTTCTCTCT
XR_946382.2:n.1855+108_1855+109insCTCTTTTAGATTCTTCCCTAGCGTTGCTCTTTCTCTCT
XR_946383.2:n.1855+108_1855+109insCTCTTTTAGATTCTTCCCTAGCGTTGCTCTTTCTCTCT
XR_946384.2:n.1580+108_1580+109insCTCTTTTAGATTCTTCCCTAGCGTTGCTCTTTCTCTCT
XR_946385.2:n.1855+108_1855+109insCTCTTTTAGATTCTTCCCTAGCGTTGCTCTTTCTCTCT