Allele Registry

Evidence Repository - SERVICE OUTAGE2026-04-17T09:00:00-0500 — 2026-04-22T17:00:00-0500
The Evidence Repository UI outage is being looked into.
It appears to be an issue in the underlying API service, in particular unexpected elevated usage of an expensive matching and filtering request.

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102853090_102854467del , CM000674.2:g.102853090_102854467del	GRCh38
NC_000012.11:g.103246868_103248245del , CM000674.1:g.103246868_103248245del	GRCh37
NC_000012.10:g.101770998_101772375del	NCBI36
NG_008690.1:g.68137_69514del
NG_008690.2:g.108945_110322del

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.706+670_707-139del MANE Select	NP_000268.1:n.706+670_707-139del
ENST00000553106.6:c.706+670_707-139del MANE Select	ENSP00000448059.1:n.706+670_707-139del
NM_000277.1:c.706+670_707-139del	NP_000268.1:n.706+670_707-139del
NM_000277.2:c.706+670_707-139del	NP_000268.1:n.706+670_707-139del
NM_001354304.1:c.706+670_707-139del	NP_001341233.1:n.706+670_707-139del
NM_001354304.2:c.706+670_707-139del	NP_001341233.1:n.706+670_707-139del
ENST00000307000.7:c.691+670_692-139del	ENSP00000303500.2:n.691+670_692-139del
ENST00000553106.5:c.706+670_707-139del	ENSP00000448059.1:n.706+670_707-139del
XM_011538422.1:c.706+670_707-139del	XP_011536724.1:n.706+670_707-139del