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_000017.11:g.30221475_30221542delinsACCCGGGTCACAGCCCATCCCAGGTCACAGCCCACCCCAGGTCGCAGCCCACCCGGGTCACAGCCCAC , CM000679.2:g.30221475_30221542delinsACCCGGGTCACAGCCCATCCCAGGTCACAGCCCACCCCAGGTCGCAGCCCACCCGGGTCACAGCCCAC	GRCh38
NC_000017.10:g.28548493_28548560delinsACCCGGGTCACAGCCCATCCCAGGTCACAGCCCACCCCAGGTCGCAGCCCACCCGGGTCACAGCCCAC , CM000679.1:g.28548493_28548560delinsACCCGGGTCACAGCCCATCCCAGGTCACAGCCCACCCCAGGTCGCAGCCCACCCGGGTCACAGCCCAC	GRCh37
NC_000017.9:g.25572619_25572686delinsACCCGGGTCACAGCCCATCCCAGGTCACAGCCCACCCCAGGTCGCAGCCCACCCGGGTCACAGCCCAC	NCBI36
NG_011747.2:g.19395_19462delinsGTGGGCTGTGACCCGGGTGGGCTGCGACCTGGGGTGGGCTGTGACCTGGGATGGGCTGTGACCCGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650711.1:c.343+74_343+141delinsGTGGGCTGTGACCCGGGTGGGCTGCGACCTGGGGTGGGCTGTGACCTGGGATGGGCTGTGACCCGGGT MANE Select	ENSP00000498537.1:n.343+74_343+141delinsGTGGGCTGTGACCCGGGTGGG...
ENST00000261707.7:c.343+74_343+141delinsGTGGGCTGTGACCCGGGTGGGCTGCGACCTGGGGTGGGCTGTGACCTGGGATGGGCTGTGACCCGGGT	ENSP00000261707.3:n.343+74_343+141delinsGTGGGCTGTGACCCGGGTGGG...
ENST00000394821.2:c.343+74_343+141delinsGTGGGCTGTGACCCGGGTGGGCTGCGACCTGGGGTGGGCTGTGACCTGGGATGGGCTGTGACCCGGGT	ENSP00000378298.2:n.343+74_343+141delinsGTGGGCTGTGACCCGGGTGGG...
ENST00000401766.6:c.343+74_343+141delinsGTGGGCTGTGACCCGGGTGGGCTGCGACCTGGGGTGGGCTGTGACCTGGGATGGGCTGTGACCCGGGT	ENSP00000385822.2:n.343+74_343+141delinsGTGGGCTGTGACCCGGGTGGG...
NM_001045.5:c.343+74_343+141delinsGTGGGCTGTGACCCGGGTGGGCTGCGACCTGGGGTGGGCTGTGACCTGGGATGGGCTGTGACCCGGGT	NP_001036.1:n.343+74_343+141delinsGTGGGCTGTGACCCGGGTGGGCTGCGA...
NM_001045.6:c.343+74_343+141delinsGTGGGCTGTGACCCGGGTGGGCTGCGACCTGGGGTGGGCTGTGACCTGGGATGGGCTGTGACCCGGGT MANE Select	NP_001036.1:n.343+74_343+141delinsGTGGGCTGTGACCCGGGTGGGCTGCGA...