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_000012.12:g.91107275_91107315delinsGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA , CM000674.2:g.91107275_91107315delinsGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	GRCh38
NC_000012.11:g.91501052_91501092delinsGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA , CM000674.1:g.91501052_91501092delinsGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	GRCh37
NC_000012.10:g.90025183_90025223delinsGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+803_862+843delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC MANE Select	ENSP00000266718.4:n.862+803_862+843delinsTTCTTTCTTTCTTTCTTTCT...
ENST00000266718.4:c.862+803_862+843delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC	ENSP00000266718.4:n.862+803_862+843delinsTTCTTTCTTTCTTTCTTTCT...
ENST00000546642.1:n.612+803_612+843delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC
ENST00000548071.1:n.255+803_255+843delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC
NM_002345.3:c.862+803_862+843delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC	NP_002336.1:n.862+803_862+843delinsTTCTTTCTTTCTTTCTTTCTTTCTTT...
NM_002345.4:c.862+803_862+843delinsTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC MANE Select	NP_002336.1:n.862+803_862+843delinsTTCTTTCTTTCTTTCTTTCTTTCTTT...