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_000020.11:g.10644864_10644865del , CM000682.2:g.10644864_10644865del	GRCh38
NC_000020.10:g.10625512_10625513del , CM000682.1:g.10625512_10625513del	GRCh37
NC_000020.9:g.10573512_10573513del	NCBI36
NG_007496.1:g.34184_34185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344_2344+1del
ENST00000617965.2:n.2933_2933+1del
ENST00000254958.9:c.2344_2344+1del
ENST00000423891.6:n.2210_2210+1del
ENST00000488480.2:n.741_742del
NM_000214.2:c.2344_2344+1del
NM_000214.3:c.2344_2344+1del