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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 allow 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.5044392_5044393insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC , CM000674.2:g.5044392_5044393insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC
GRCh38
NC_000012.11:g.5153558_5153559insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC , CM000674.1:g.5153558_5153559insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC
GRCh37
NC_000012.10:g.5023819_5023820insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC
NCBI36
NG_012198.1:g.5474_5475insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000252321.5:c.245_246insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC
MANE Select
ENSP00000252321.3:p.Pro82_Glu83insAspProGlyValArgProLeuProPro...
ENST00000252321.4:c.245_246insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC
ENSP00000252321.3:p.Pro82_Glu83insAspProGlyValArgProLeuProPro...
NM_002234.3:c.245_246insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC
NP_002225.2:p.Pro82_Glu83insAspProGlyValArgProLeuProProLeuPro...
NM_002234.4:c.245_246insGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACCCGGGAGTGCGGCCCTTGCCTCCGCTGCC
MANE Select
NP_002225.2:p.Pro82_Glu83insAspProGlyValArgProLeuProProLeuPro...