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_000020.11:g.62738042_62738043insCGTGCCCATCTGCCCACGTCTGCCCGCATCCCTTTCCCTGC , CM000682.2:g.62738042_62738043insCGTGCCCATCTGCCCACGTCTGCCCGCATCCCTTTCCCTGC	GRCh38
NC_000020.10:g.61369394_61369395insCGTGCCCATCTGCCCACGTCTGCCCGCATCCCTTTCCCTGC , CM000682.1:g.61369394_61369395insCGTGCCCATCTGCCCACGTCTGCCCGCATCCCTTTCCCTGC	GRCh37
NC_000020.9:g.60839839_60839840insCGTGCCCATCTGCCCACGTCTGCCCGCATCCCTTTCCCTGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370501.4:c.715-16643_715-16642insCGTGCCCATCTGCCCACGTCTGCCCGCATCCCTTTCCCTGC MANE Select	ENSP00000359532.3:n.715-16643_715-16642insCGTGCCCATCTGCCCACGT...
ENST00000370501.3:c.715-16643_715-16642insCGTGCCCATCTGCCCACGTCTGCCCGCATCCCTTTCCCTGC	ENSP00000359532.3:n.715-16643_715-16642insCGTGCCCATCTGCCCACGT...
NM_002531.2:c.715-16643_715-16642insCGTGCCCATCTGCCCACGTCTGCCCGCATCCCTTTCCCTGC	NP_002522.2:n.715-16643_715-16642insCGTGCCCATCTGCCCACGTCTGCCC...
XM_011528827.1:c.715-16643_715-16642insCGTGCCCATCTGCCCACGTCTGCCCGCATCCCTTTCCCTGC	XP_011527129.1:n.715-16643_715-16642insCGTGCCCATCTGCCCACGTCTG...
XM_011528827.2:c.715-16643_715-16642insCGTGCCCATCTGCCCACGTCTGCCCGCATCCCTTTCCCTGC	XP_011527129.1:n.715-16643_715-16642insCGTGCCCATCTGCCCACGTCTG...
NM_002531.3:c.715-16643_715-16642insCGTGCCCATCTGCCCACGTCTGCCCGCATCCCTTTCCCTGC MANE Select	NP_002522.2:n.715-16643_715-16642insCGTGCCCATCTGCCCACGTCTGCCC...