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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.52488551_52488552insCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGC , CM000674.2:g.52488551_52488552insCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGC
GRCh38
NC_000012.11:g.52882335_52882336insCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGC , CM000674.1:g.52882335_52882336insCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGC
GRCh37
NC_000012.10:g.51168602_51168603insCTTCTTGACGTGGTCGATCTCAGATCTCAGCCTCTGGATCATGCGGTTGATCTCAGCAATCTCCTGCTTGGTGTTGC
NCBI36
NG_008298.1:g.9846_9847insGCAACACCAAGCAGGAGATTGCTGAGATCAACCGCATGATCCAGAGGCTGAGATCTGAGATCGACCACGTCAAGAAG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000330722.7:c.1204-4_1204-3insGCAACACCAAGCAGGAGATTGCTGAGATCAACCGCATGATCCAGAGGCTGAGATCTGAGATCGACCACGTCAAGAAG
MANE Select
ENSP00000369317.3:n.1204-4_1204-3insGCAACACCAAGCAGGAGATTGCTGA...
ENST00000330722.6:c.1204-4_1204-3insGCAACACCAAGCAGGAGATTGCTGAGATCAACCGCATGATCCAGAGGCTGAGATCTGAGATCGACCACGTCAAGAAG
ENSP00000369317.3:n.1204-4_1204-3insGCAACACCAAGCAGGAGATTGCTGA...
NM_005554.3:c.1204-4_1204-3insGCAACACCAAGCAGGAGATTGCTGAGATCAACCGCATGATCCAGAGGCTGAGATCTGAGATCGACCACGTCAAGAAG
NP_005545.1:n.1204-4_1204-3insGCAACACCAAGCAGGAGATTGCTGAGATCAA...
NM_005554.4:c.1204-4_1204-3insGCAACACCAAGCAGGAGATTGCTGAGATCAACCGCATGATCCAGAGGCTGAGATCTGAGATCGACCACGTCAAGAAG
MANE Select
NP_005545.1:n.1204-4_1204-3insGCAACACCAAGCAGGAGATTGCTGAGATCAA...