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_000010.11:g.122506601dup , CM000672.2:g.122506601dup	GRCh38
NC_000010.10:g.124266117dup , CM000672.1:g.124266117dup	GRCh37
NC_000010.9:g.124256107dup	NCBI36
NG_011554.1:g.50077dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.778-90dup MANE Select	ENSP00000357980.3:n.778-90dup
ENST00000648167.1:c.460-90dup	ENSP00000498033.1:n.460-90dup
ENST00000368984.7:c.778-90dup	ENSP00000357980.3:n.778-90dup
NM_002775.4:c.778-90dup	NP_002766.1:n.778-90dup
NM_002775.5:c.778-90dup MANE Select	NP_002766.1:n.778-90dup