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_000010.11:g.104038223_104038245delinsGACACACATACACACACACACAC , CM000672.2:g.104038223_104038245delinsGACACACATACACACACACACAC	GRCh38
NC_000010.10:g.105797981_105798003delinsGACACACATACACACACACACAC , CM000672.1:g.105797981_105798003delinsGACACACATACACACACACACAC	GRCh37
NC_000010.9:g.105787971_105787993delinsGACACACATACACACACACACAC	NCBI36
NG_007069.1:g.52636_52658delinsGTGTGTGTGTGTGTATGTGTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2935+161_2935+183delinsGTGTGTGTGTGTGTATGTGTGTC	ENSP00000358748.3:n.2935+161_2935+183delinsGTGTGTGTGTGTGTATGT...
ENST00000648076.2:c.3070+161_3070+183delinsGTGTGTGTGTGTGTATGTGTGTC MANE Select	ENSP00000497653.1:n.3070+161_3070+183delinsGTGTGTGTGTGTGTATGT...
ENST00000353479.9:c.3070+161_3070+183delinsGTGTGTGTGTGTGTATGTGTGTC	ENSP00000340937.5:n.3070+161_3070+183delinsGTGTGTGTGTGTGTATGT...
ENST00000369733.7:c.2935+161_2935+183delinsGTGTGTGTGTGTGTATGTGTGTC	ENSP00000358748.3:n.2935+161_2935+183delinsGTGTGTGTGTGTGTATGT...
NM_000494.3:c.3070+161_3070+183delinsGTGTGTGTGTGTGTATGTGTGTC	NP_000485.3:n.3070+161_3070+183delinsGTGTGTGTGTGTGTATGTGTGTC
NM_000494.4:c.3070+161_3070+183delinsGTGTGTGTGTGTGTATGTGTGTC MANE Select	NP_000485.3:n.3070+161_3070+183delinsGTGTGTGTGTGTGTATGTGTGTC