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.7526611_7526647delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA , CM000681.2:g.7526611_7526647delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA	GRCh38
NC_000019.9:g.7591497_7591533delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA , CM000681.1:g.7591497_7591533delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA	GRCh37
NC_000019.8:g.7497497_7497533delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA	NCBI36
NG_015806.1:g.9002_9038delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.405+5_405+41delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA MANE Select	ENSP00000264079.5:n.405+5_405+41delinsTGGTGGGCGGGCAGGTGCTGGTG...
ENST00000264079.10:c.405+5_405+41delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA	ENSP00000264079.5:n.405+5_405+41delinsTGGTGGGCGGGCAGGTGCTGGTG...
ENST00000394321.9:n.485+5_485+41delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA
ENST00000596008.1:n.367+5_367+41delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA
ENST00000598406.1:n.226+5_226+41delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA
ENST00000601003.1:c.405+5_405+41delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA	ENSP00000469074.1:n.405+5_405+41delinsTGGTGGGCGGGCAGGTGCTGGTG...
NM_020533.2:c.405+5_405+41delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA	NP_065394.1:n.405+5_405+41delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGG...
NM_020533.3:c.405+5_405+41delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCA MANE Select	NP_065394.1:n.405+5_405+41delinsTGGTGGGCGGGCAGGTGCTGGTGGGCAGG...