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.215648501dup , CM000663.2:g.215648501dup	GRCh38
NC_000001.10:g.215821843dup , CM000663.1:g.215821843dup	GRCh37
NC_000001.9:g.213888466dup	NCBI36
NG_009497.1:g.779898dup
NG_009497.2:g.779950dup

Transcript Alleles

HGVS	Amino-acid Change
NM_206933.4:c.14582+29dup MANE Select	NP_996816.3:n.14582+29dup
ENST00000307340.8:c.14582+29dup MANE Select	ENSP00000305941.3:n.14582+29dup
NM_206933.2:c.14582+29dup	NP_996816.2:n.14582+29dup
NM_206933.3:c.14582+29dup	NP_996816.2:n.14582+29dup
ENST00000307340.7:c.14582+29dup	ENSP00000305941.3:n.14582+29dup
ENST00000674083.1:c.14582+29dup	ENSP00000501296.1:n.14582+29dup