×
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.47332066_47332090delinsCCTCACCTCGCACCTCCAGGCGGCA , CM000673.2:g.47332066_47332090delinsCCTCACCTCGCACCTCCAGGCGGCA
GRCh38
NC_000011.9:g.47353617_47353641delinsCCTCACCTCGCACCTCCAGGCGGCA , CM000673.1:g.47353617_47353641delinsCCTCACCTCGCACCTCCAGGCGGCA
GRCh37
NC_000011.8:g.47310193_47310217delinsCCTCACCTCGCACCTCCAGGCGGCA
NCBI36
NG_007667.1:g.25613_25637delinsTGCCGCCTGGAGGTGCGAGGTGAGG , LRG_386:g.25613_25637delinsTGCCGCCTGGAGGTGCGAGGTGAGG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000545968.6:c.3796_3814+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG
ENST00000256993.8:c.3796_3814+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG
ENST00000399249.6:c.3796_3814+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG
ENST00000545968.5:c.3796_3814+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG
NM_000256.3:c.3796_3814+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG , LRG_386t1:c.3796_3814+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG
XM_011520117.1:c.3778_3796+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG
XM_011520118.1:c.3715_3733+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG