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_000001.11:g.215648521_215648538del , CM000663.2:g.215648521_215648538del	GRCh38
NC_000001.10:g.215821863_215821880del , CM000663.1:g.215821863_215821880del	GRCh37
NC_000001.9:g.213888486_213888503del	NCBI36
NG_009497.1:g.779863_779880del
NG_009497.2:g.779915_779932del

Transcript Alleles

HGVS	Amino-acid Change
NM_206933.2:c.14576_14582+11del
NM_206933.3:c.14576_14582+11del
NM_206933.4:c.14576_14582+11del
ENST00000307340.7:c.14576_14582+11del
ENST00000307340.8:c.14576_14582+11del
ENST00000674083.1:c.14576_14582+11del