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.104038231_104038267delinsTACACACACACACACACACACACACACACACACACAC , CM000672.2:g.104038231_104038267delinsTACACACACACACACACACACACACACACACACACAC	GRCh38
NC_000010.10:g.105797989_105798025delinsTACACACACACACACACACACACACACACACACACAC , CM000672.1:g.105797989_105798025delinsTACACACACACACACACACACACACACACACACACAC	GRCh37
NC_000010.9:g.105787979_105788015delinsTACACACACACACACACACACACACACACACACACAC	NCBI36
NG_007069.1:g.52614_52650delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2935+139_2935+175delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	ENSP00000358748.3:n.2935+139_2935+175delinsGTGTGTGTGTGTGTGTGT...
ENST00000648076.2:c.3070+139_3070+175delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA MANE Select	ENSP00000497653.1:n.3070+139_3070+175delinsGTGTGTGTGTGTGTGTGT...
ENST00000353479.9:c.3070+139_3070+175delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	ENSP00000340937.5:n.3070+139_3070+175delinsGTGTGTGTGTGTGTGTGT...
ENST00000369733.7:c.2935+139_2935+175delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	ENSP00000358748.3:n.2935+139_2935+175delinsGTGTGTGTGTGTGTGTGT...
NM_000494.3:c.3070+139_3070+175delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	NP_000485.3:n.3070+139_3070+175delinsGTGTGTGTGTGTGTGTGTGTGTGT...
NM_000494.4:c.3070+139_3070+175delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA MANE Select	NP_000485.3:n.3070+139_3070+175delinsGTGTGTGTGTGTGTGTGTGTGTGT...