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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_000006.12:g.28161823_28161824insCTTAATTATTAGTGATCTGAAAGCCAACACACTATATCCTGTGTGCTTTCTCAAAGATTAGAGACAAGAACCAAGAACAATATTTTCA , CM000668.2:g.28161823_28161824insCTTAATTATTAGTGATCTGAAAGCCAACACACTATATCCTGTGTGCTTTCTCAAAGATTAGAGACAAGAACCAAGAACAATATTTTCA
GRCh38
NC_000006.11:g.28129601_28129602insCTTAATTATTAGTGATCTGAAAGCCAACACACTATATCCTGTGTGCTTTCTCAAAGATTAGAGACAAGAACCAAGAACAATATTTTCA , CM000668.1:g.28129601_28129602insCTTAATTATTAGTGATCTGAAAGCCAACACACTATATCCTGTGTGCTTTCTCAAAGATTAGAGACAAGAACCAAGAACAATATTTTCA
GRCh37
NC_000006.10:g.28237580_28237581insCTTAATTATTAGTGATCTGAAAGCCAACACACTATATCCTGTGTGCTTTCTCAAAGATTAGAGACAAGAACCAAGAACAATATTTTCA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000562227.2:n.53+2_53+3insCTTAATTATTAGTGATCTGAAAGCCAACACACTATATCCTGTGTGCTTTCTCAAAGATTAGAGACAAGAACCAAGAACAATATTTTCA
ENST00000440790.6:n.41+2_41+3insCTTAATTATTAGTGATCTGAAAGCCAACACACTATATCCTGTGTGCTTTCTCAAAGATTAGAGACAAGAACCAAGAACAATATTTTCA
ENST00000570126.1:n.30+2_30+3insCTTAATTATTAGTGATCTGAAAGCCAACACACTATATCCTGTGTGCTTTCTCAAAGATTAGAGACAAGAACCAAGAACAATATTTTCA
NR_103448.1:n.61+2_61+3insCTTAATTATTAGTGATCTGAAAGCCAACACACTATATCCTGTGTGCTTTCTCAAAGATTAGAGACAAGAACCAAGAACAATATTTTCA