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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_000012.12:g.4372695_4372717delinsCACCTATGGAGAAAAACAGGCAG , CM000674.2:g.4372695_4372717delinsCACCTATGGAGAAAAACAGGCAG
GRCh38
NC_000012.11:g.4481861_4481883delinsCACCTATGGAGAAAAACAGGCAG , CM000674.1:g.4481861_4481883delinsCACCTATGGAGAAAAACAGGCAG
GRCh37
NC_000012.10:g.4352122_4352144delinsCACCTATGGAGAAAAACAGGCAG
NCBI36
NG_007087.1:g.12012_12034delinsCTGCCTGTTTTTCTCCATAGGTG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000237837.2:c.212-20_214delinsCTGCCTGTTTTTCTCCATAGGTG
ENST00000648100.1:c.*1967+6413_*1967+6435delinsCACCTATGGAGAAAAACAGGCAG
ENSP00000497536.1:n.*1967+6413_*1967+6435delinsCACCTATGGAGAAA...
ENST00000648269.1:n.1692_1714delinsCTGCCTGTTTTTCTCCATAGGTG
ENST00000674624.1:c.*1204+6413_*1204+6435delinsCACCTATGGAGAAAAACAGGCAG
ENSP00000501898.1:n.*1204+6413_*1204+6435delinsCACCTATGGAGAAA...
ENST00000237837.1:c.212-20_214delinsCTGCCTGTTTTTCTCCATAGGTG
NM_020638.2:c.212-20_214delinsCTGCCTGTTTTTCTCCATAGGTG
NM_020638.3:c.212-20_214delinsCTGCCTGTTTTTCTCCATAGGTG