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_000007.14:g.128855090_128855091delinsGA , CM000669.2:g.128855090_128855091delinsGA	GRCh38
NC_000007.13:g.128495144_128495145delinsGA , CM000669.1:g.128495144_128495145delinsGA	GRCh37
NC_000007.12:g.128282380_128282381delinsGA	NCBI36
NG_011807.1:g.29662_29663delinsGA , LRG_870:g.29662_29663delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.7136-109_7136-108delinsGA (FLNC) MANE Select	ENSP00000327145.8:n.7136-109_7136-108delinsGA
ENST00000325888.12:c.7136-109_7136-108delinsGA (FLNC)	ENSP00000327145.8:n.7136-109_7136-108delinsGA
ENST00000346177.6:c.7037-109_7037-108delinsGA (FLNC)	ENSP00000344002.6:n.7037-109_7037-108delinsGA
NM_001127487.1:c.7037-109_7037-108delinsGA (FLNC)	NP_001120959.1:n.7037-109_7037-108delinsGA
NM_001458.4:c.7136-109_7136-108delinsGA , LRG_870t1:c.7136-109_7136-108delinsGA (FLNC)	NP_001449.3:n.7136-109_7136-108delinsGA
NR_149055.1:n.103-1694_103-1693delinsTC (FLNC-AS1)
NM_001127487.2:c.7037-109_7037-108delinsGA (FLNC)	NP_001120959.1:n.7037-109_7037-108delinsGA
NM_001458.5:c.7136-109_7136-108delinsGA (FLNC) MANE Select	NP_001449.3:n.7136-109_7136-108delinsGA