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.215648503_215648504del , CM000663.2:g.215648503_215648504del	GRCh38
NC_000001.10:g.215821845_215821846del , CM000663.1:g.215821845_215821846del	GRCh37
NC_000001.9:g.213888468_213888469del	NCBI36
NG_009497.1:g.779893_779894del
NG_009497.2:g.779945_779946del

Transcript Alleles

HGVS	Amino-acid Change
NM_206933.4:c.14582+24_14582+25del MANE Select	NP_996816.3:n.14582+24_14582+25del
ENST00000307340.8:c.14582+24_14582+25del MANE Select	ENSP00000305941.3:n.14582+24_14582+25del
NM_206933.2:c.14582+24_14582+25del	NP_996816.2:n.14582+24_14582+25del
NM_206933.3:c.14582+24_14582+25del	NP_996816.2:n.14582+24_14582+25del
ENST00000307340.7:c.14582+24_14582+25del	ENSP00000305941.3:n.14582+24_14582+25del
ENST00000674083.1:c.14582+24_14582+25del	ENSP00000501296.1:n.14582+24_14582+25del