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_000019.10:g.7526631_7526667delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT , CM000681.2:g.7526631_7526667delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT	GRCh38
NC_000019.9:g.7591517_7591553delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT , CM000681.1:g.7591517_7591553delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT	GRCh37
NC_000019.8:g.7497517_7497553delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT	NCBI36
NG_015806.1:g.9022_9058delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.405+25_405+61delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT MANE Select	ENSP00000264079.5:n.405+25_405+61delinsGTGGGCAGGCAGGTGCAGGTGG...
ENST00000264079.10:c.405+25_405+61delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT	ENSP00000264079.5:n.405+25_405+61delinsGTGGGCAGGCAGGTGCAGGTGG...
ENST00000394321.9:n.485+25_485+61delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT
ENST00000596008.1:n.367+25_367+61delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT
ENST00000598406.1:n.226+25_226+61delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT
ENST00000601003.1:c.405+25_405+61delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT	ENSP00000469074.1:n.405+25_405+61delinsGTGGGCAGGCAGGTGCAGGTGG...
NM_020533.2:c.405+25_405+61delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT	NP_065394.1:n.405+25_405+61delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGC...
NM_020533.3:c.405+25_405+61delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT MANE Select	NP_065394.1:n.405+25_405+61delinsGTGGGCAGGCAGGTGCAGGTGGGCGGGC...