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.30221446_30221496delinsGGGTCACAGCCCACCCCAGGTCACAGCCCACCCGGGTCACAGCCCATCCCA , CM000679.2:g.30221446_30221496delinsGGGTCACAGCCCACCCCAGGTCACAGCCCACCCGGGTCACAGCCCATCCCA	GRCh38
NC_000017.10:g.28548464_28548514delinsGGGTCACAGCCCACCCCAGGTCACAGCCCACCCGGGTCACAGCCCATCCCA , CM000679.1:g.28548464_28548514delinsGGGTCACAGCCCACCCCAGGTCACAGCCCACCCGGGTCACAGCCCATCCCA	GRCh37
NC_000017.9:g.25572590_25572640delinsGGGTCACAGCCCACCCCAGGTCACAGCCCACCCGGGTCACAGCCCATCCCA	NCBI36
NG_011747.2:g.19441_19491delinsTGGGATGGGCTGTGACCCGGGTGGGCTGTGACCTGGGGTGGGCTGTGACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650711.1:c.343+120_343+170delinsTGGGATGGGCTGTGACCCGGGTGGGCTGTGACCTGGGGTGGGCTGTGACCC MANE Select	ENSP00000498537.1:n.343+120_343+170delinsTGGGATGGGCTGTGACCCGG...
ENST00000261707.7:c.343+120_343+170delinsTGGGATGGGCTGTGACCCGGGTGGGCTGTGACCTGGGGTGGGCTGTGACCC	ENSP00000261707.3:n.343+120_343+170delinsTGGGATGGGCTGTGACCCGG...
ENST00000394821.2:c.343+120_343+170delinsTGGGATGGGCTGTGACCCGGGTGGGCTGTGACCTGGGGTGGGCTGTGACCC	ENSP00000378298.2:n.343+120_343+170delinsTGGGATGGGCTGTGACCCGG...
ENST00000401766.6:c.343+120_343+170delinsTGGGATGGGCTGTGACCCGGGTGGGCTGTGACCTGGGGTGGGCTGTGACCC	ENSP00000385822.2:n.343+120_343+170delinsTGGGATGGGCTGTGACCCGG...
NM_001045.5:c.343+120_343+170delinsTGGGATGGGCTGTGACCCGGGTGGGCTGTGACCTGGGGTGGGCTGTGACCC	NP_001036.1:n.343+120_343+170delinsTGGGATGGGCTGTGACCCGGGTGGGC...
NM_001045.6:c.343+120_343+170delinsTGGGATGGGCTGTGACCCGGGTGGGCTGTGACCTGGGGTGGGCTGTGACCC MANE Select	NP_001036.1:n.343+120_343+170delinsTGGGATGGGCTGTGACCCGGGTGGGC...