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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_000011.10:g.640170_640171insCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCCGGACCCCTGCGGC , CM000673.2:g.640170_640171insCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCCGGACCCCTGCGGC
GRCh38
NC_000011.9:g.640170_640171insCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCCGGACCCCTGCGGC , CM000673.1:g.640170_640171insCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCCGGACCCCTGCGGC
GRCh37
NC_000011.8:g.630170_630171insCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCCGGACCCCTGCGGC
NCBI36
NG_021241.1:g.7866_7867insCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCCGGACCCCTGCGGC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000176183.6:c.921_922insCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCCGGACCCCTGCGGC
MANE Select
ENSP00000176183.5:p.Gly307_Ser308insProAspCysAlaProProAlaProG...
ENST00000176183.5:c.921_922insCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCCGGACCCCTGCGGC
ENSP00000176183.5:p.Gly307_Ser308insProAspCysAlaProProAlaProG...
NM_000797.3:c.921_922insCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCCGGACCCCTGCGGC
NP_000788.2:p.Gly307_Ser308insProAspCysAlaProProAlaProGlyLeuP...
NM_000797.4:c.921_922insCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCCGGACCCCTGCGGC
MANE Select
NP_000788.2:p.Gly307_Ser308insProAspCysAlaProProAlaProGlyLeuP...