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_000012.12:g.21215941_21215955delinsGTTGGATGGTTCATT , CM000674.2:g.21215941_21215955delinsGTTGGATGGTTCATT	GRCh38
NC_000012.11:g.21368875_21368889delinsGTTGGATGGTTCATT , CM000674.1:g.21368875_21368889delinsGTTGGATGGTTCATT	GRCh37
NC_000012.10:g.21260142_21260156delinsGTTGGATGGTTCATT	NCBI36
NG_011745.1:g.89748_89762delinsGTTGGATGGTTCATT , LRG_1022:g.89748_89762delinsGTTGGATGGTTCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256958.3:c.1498-1178_1498-1164delinsGTTGGATGGTTCATT MANE Select	ENSP00000256958.2:n.1498-1178_1498-1164delinsGTTGGATGGTTCATT
ENST00000256958.2:c.1498-1178_1498-1164delinsGTTGGATGGTTCATT	ENSP00000256958.2:n.1498-1178_1498-1164delinsGTTGGATGGTTCATT
NM_006446.4:c.1498-1178_1498-1164delinsGTTGGATGGTTCATT , LRG_1022t1:c.1498-1178_1498-1164delinsGTTGGATGGTTCATT	NP_006437.3:n.1498-1178_1498-1164delinsGTTGGATGGTTCATT
NM_006446.5:c.1498-1178_1498-1164delinsGTTGGATGGTTCATT MANE Select	NP_006437.3:n.1498-1178_1498-1164delinsGTTGGATGGTTCATT