×
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_000010.11:g.114045471_114045517delinsCCCTGGGCCGGCTGCAACGGCGGGGCGGCGGCGGACAGCGACTCGAG , CM000672.2:g.114045471_114045517delinsCCCTGGGCCGGCTGCAACGGCGGGGCGGCGGCGGACAGCGACTCGAG
GRCh38
NC_000010.10:g.115805230_115805276delinsCCCTGGGCCGGCTGCAACGGCGGGGCGGCGGCGGACAGCGACTCGAG , CM000672.1:g.115805230_115805276delinsCCCTGGGCCGGCTGCAACGGCGGGGCGGCGGCGGACAGCGACTCGAG
GRCh37
NC_000010.9:g.115795220_115795266delinsCCCTGGGCCGGCTGCAACGGCGGGGCGGCGGCGGACAGCGACTCGAG
NCBI36
NG_012187.1:g.6425_6471delinsCCCTGGGCCGGCTGCAACGGCGGGGCGGCGGCGGACAGCGACTCGAG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000369295.4:c.1339_1385delinsCCCTGGGCCGGCTGCAACGGCGGGGCGGCGGCGGACAGCGACTCGAG
MANE Select
ENSP00000358301.2:p.Pro447=
ENST00000369295.3:c.1339_1385delinsCCCTGGGCCGGCTGCAACGGCGGGGCGGCGGCGGACAGCGACTCGAG
ENSP00000358301.2:p.Pro447=
NM_000684.2:c.1339_1385delinsCCCTGGGCCGGCTGCAACGGCGGGGCGGCGGCGGACAGCGACTCGAG
NP_000675.1:p.Pro447=
NM_000684.3:c.1339_1385delinsCCCTGGGCCGGCTGCAACGGCGGGGCGGCGGCGGACAGCGACTCGAG
MANE Select
NP_000675.1:p.Pro447=