Allele Registry

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_000006.12:g.160260378_160260397delinsTGTAATAGCGTAGTCTAAAA , CM000668.2:g.160260378_160260397delinsTGTAATAGCGTAGTCTAAAA	GRCh38
NC_000006.11:g.160681410_160681429delinsTGTAATAGCGTAGTCTAAAA , CM000668.1:g.160681410_160681429delinsTGTAATAGCGTAGTCTAAAA	GRCh37
NC_000006.10:g.160601400_160601419delinsTGTAATAGCGTAGTCTAAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366952.1:c.-1006_-987delinsTTTTAGACTACGCTATTACA	ENSP00000355919.1:n.-1006_-987delinsTTTTAGACTACGCTATTACA