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OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400 The first of two essential broad service outages will occur over the weekend. The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned. Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.45984205_45984227delinsTGGGACGGGTAGCGATGGCGCCA , CM000683.2:g.45984205_45984227delinsTGGGACGGGTAGCGATGGCGCCA
GRCh38
NC_000021.8:g.47404119_47404141delinsTGGGACGGGTAGCGATGGCGCCA , CM000683.1:g.47404119_47404141delinsTGGGACGGGTAGCGATGGCGCCA
GRCh37
NC_000021.7:g.46228547_46228569delinsTGGGACGGGTAGCGATGGCGCCA
NCBI36
NG_008674.1:g.7457_7479delinsTGGGACGGGTAGCGATGGCGCCA , LRG_475:g.7457_7479delinsTGGGACGGGTAGCGATGGCGCCA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361866.8:c.228-64_228-42delinsTGGGACGGGTAGCGATGGCGCCA
MANE Select
ENSP00000355180.3:n.228-64_228-42delinsTGGGACGGGTAGCGATGGCGCC...
ENST00000361866.7:c.228-64_228-42delinsTGGGACGGGTAGCGATGGCGCCA
ENSP00000355180.3:n.228-64_228-42delinsTGGGACGGGTAGCGATGGCGCC...
ENST00000612273.1:c.228-64_228-42delinsTGGGACGGGTAGCGATGGCGCCA
ENSP00000483630.1:n.228-64_228-42delinsTGGGACGGGTAGCGATGGCGCC...
NM_001848.2:c.228-64_228-42delinsTGGGACGGGTAGCGATGGCGCCA , LRG_475t1:c.228-64_228-42delinsTGGGACGGGTAGCGATGGCGCCA
NP_001839.2:n.228-64_228-42delinsTGGGACGGGTAGCGATGGCGCCA
NM_001848.3:c.228-64_228-42delinsTGGGACGGGTAGCGATGGCGCCA
MANE Select
NP_001839.2:n.228-64_228-42delinsTGGGACGGGTAGCGATGGCGCCA