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_000008.11:g.86667131_86667137del , CM000670.2:g.86667131_86667137del	GRCh38
NC_000008.10:g.87679359_87679365del , CM000670.1:g.87679359_87679365del	GRCh37
NC_000008.9:g.87748475_87748481del	NCBI36
NG_016980.1:g.81539_81545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.644-4_646del
ENST00000681746.1:c.644-4_646del
ENST00000320005.5:c.644-4_646del
NM_019098.4:c.644-4_646del
XM_011517138.1:c.230-4_232del
XM_011517138.2:c.230-4_232del
NM_019098.5:c.644-4_646del