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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_000004.12:g.24800041_24800080delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC , CM000666.2:g.24800041_24800080delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC
GRCh38
NC_000004.11:g.24801663_24801702delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC , CM000666.1:g.24801663_24801702delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC
GRCh37
NC_000004.10:g.24410761_24410800delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC
NCBI36
NG_012213.1:g.9579_9618delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000382120.4:c.520_559delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC
MANE Select
ENSP00000371554.3:p.Val174=
ENST00000382120.3:c.520_559delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC
ENSP00000371554.3:p.Val174=
NM_003102.2:c.520_559delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC
NP_003093.2:p.Val174=
XR_427488.1:n.710_749delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC
NM_003102.3:c.520_559delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC
NP_003093.2:p.Val174=
NM_003102.4:c.520_559delinsGTGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC
MANE Select
NP_003093.2:p.Val174=