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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.21215941_21215955delinsGTTGGATGGTTCATT , CM000674.2:g.21215941_21215955delinsGTTGGATGGTTCATT
GRCh38
NC_000012.11:g.21368875_21368889delinsGTTGGATGGTTCATT , CM000674.1:g.21368875_21368889delinsGTTGGATGGTTCATT
GRCh37
NC_000012.10:g.21260142_21260156delinsGTTGGATGGTTCATT
NCBI36
NG_011745.1:g.89748_89762delinsGTTGGATGGTTCATT , LRG_1022:g.89748_89762delinsGTTGGATGGTTCATT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000256958.3:c.1498-1178_1498-1164delinsGTTGGATGGTTCATT
MANE Select
ENSP00000256958.2:n.1498-1178_1498-1164delinsGTTGGATGGTTCATT
ENST00000256958.2:c.1498-1178_1498-1164delinsGTTGGATGGTTCATT
ENSP00000256958.2:n.1498-1178_1498-1164delinsGTTGGATGGTTCATT
NM_006446.4:c.1498-1178_1498-1164delinsGTTGGATGGTTCATT , LRG_1022t1:c.1498-1178_1498-1164delinsGTTGGATGGTTCATT
NP_006437.3:n.1498-1178_1498-1164delinsGTTGGATGGTTCATT
NM_006446.5:c.1498-1178_1498-1164delinsGTTGGATGGTTCATT
MANE Select
NP_006437.3:n.1498-1178_1498-1164delinsGTTGGATGGTTCATT