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_000006.12:g.32289486C>A , CM000668.2:g.32289486C>A	GRCh38
NC_000006.11:g.32257263C>A , CM000668.1:g.32257263C>A	GRCh37
NC_000006.10:g.32365241C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442822.6:c.1360-817G>T (TSBP1)	ENSP00000411164.2:n.1360-817G>T
XM_011514236.1:c.*1487-560G>T (TSBP1)	XP_011512538.1:n.*1487-560G>T
XM_011515039.1:c.421+26677C>A (TSBP1-AS1)	XP_011513341.1:n.421+26677C>A
XM_011515040.1:c.421+26677C>A (TSBP1-AS1)	XP_011513342.1:n.421+26677C>A
NR_136244.1:n.440+26677C>A (TSBP1-AS1)
NR_136245.1:n.242+34072C>A (TSBP1-AS1)
NR_136246.1:n.242+34072C>A (TSBP1-AS1)