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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.120739418_120739419insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC , CM000674.2:g.120739418_120739419insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC
GRCh38
NC_000012.11:g.121177221_121177222insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC , CM000674.1:g.121177221_121177222insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC
GRCh37
NC_000012.10:g.119661604_119661605insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC
NCBI36
NG_007991.1:g.18651_18652insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242592.9:c.1209_1210insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC
ENST00000242592.8:c.1209_1210insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC
ENST00000411593.2:c.1197_1198insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC
NM_000017.3:c.1209_1210insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC
NM_001302554.1:c.1197_1198insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC
NM_000017.4:c.1209_1210insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC
NM_001302554.2:c.1197_1198insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC