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_104038267delinsGACACACATACACACACACACACACACACACACACACACACACAC , CM000672.2:g.104038223_104038267delinsGACACACATACACACACACACACACACACACACACACACACACAC	GRCh38
NC_000010.10:g.105797981_105798025delinsGACACACATACACACACACACACACACACACACACACACACACAC , CM000672.1:g.105797981_105798025delinsGACACACATACACACACACACACACACACACACACACACACACAC	GRCh37
NC_000010.9:g.105787971_105788015delinsGACACACATACACACACACACACACACACACACACACACACACAC	NCBI36
NG_007069.1:g.52614_52658delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2935+139_2935+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC	ENSP00000358748.3:n.2935+139_2935+183delinsGTGTGTGTGTGTGTGTGT...
ENST00000648076.2:c.3070+139_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC MANE Select	ENSP00000497653.1:n.3070+139_3070+183delinsGTGTGTGTGTGTGTGTGT...
ENST00000353479.9:c.3070+139_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC	ENSP00000340937.5:n.3070+139_3070+183delinsGTGTGTGTGTGTGTGTGT...
ENST00000369733.7:c.2935+139_2935+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC	ENSP00000358748.3:n.2935+139_2935+183delinsGTGTGTGTGTGTGTGTGT...
NM_000494.3:c.3070+139_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC	NP_000485.3:n.3070+139_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGT...
NM_000494.4:c.3070+139_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC MANE Select	NP_000485.3:n.3070+139_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGT...