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_000009.12:g.22019644_22019646delinsTAG , CM000671.2:g.22019644_22019646delinsTAG	GRCh38
NC_000009.11:g.22019643_22019645delinsTAG , CM000671.1:g.22019643_22019645delinsTAG	GRCh37
NC_000009.10:g.22009643_22009645delinsTAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-9789_348-9787delinsTAG	ENSP00000385916.2:n.348-9789_348-9787delinsTAG
ENST00000404796.2:c.348-9789_348-9787delinsTAG	ENSP00000385916.2:n.348-9789_348-9787delinsTAG
NR_003529.3:n.372-9789_372-9787delinsTAG
NR_047532.1:n.372-9789_372-9787delinsTAG
NR_047533.1:n.371+24483_371+24485delinsTAG
NR_047534.1:n.371+24483_371+24485delinsTAG
NR_047535.1:n.371+24483_371+24485delinsTAG
NR_047536.1:n.371+24483_371+24485delinsTAG
NR_047537.1:n.371+24483_371+24485delinsTAG
NR_047538.1:n.371+24483_371+24485delinsTAG
NR_047539.1:n.372-9789_372-9787delinsTAG
NR_047540.1:n.371+24483_371+24485delinsTAG
NR_047541.1:n.371+24483_371+24485delinsTAG
NR_047542.1:n.371+24483_371+24485delinsTAG
NR_047543.1:n.371+24483_371+24485delinsTAG
NR_120536.1:n.371+24483_371+24485delinsTAG