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.215648518_215648519delinsGA , CM000663.2:g.215648518_215648519delinsGA	GRCh38
NC_000001.10:g.215821860_215821861delinsGA , CM000663.1:g.215821860_215821861delinsGA	GRCh37
NC_000001.9:g.213888483_213888484delinsGA	NCBI36
NG_009497.1:g.779878_779879delinsTC
NG_009497.2:g.779930_779931delinsTC

Transcript Alleles

HGVS	Amino-acid Change
NM_206933.4:c.14582+9_14582+10delinsTC MANE Select	NP_996816.3:n.14582+9_14582+10delinsTC
ENST00000307340.8:c.14582+9_14582+10delinsTC MANE Select	ENSP00000305941.3:n.14582+9_14582+10delinsTC
NM_206933.2:c.14582+9_14582+10delinsTC	NP_996816.2:n.14582+9_14582+10delinsTC
NM_206933.3:c.14582+9_14582+10delinsTC	NP_996816.2:n.14582+9_14582+10delinsTC
ENST00000307340.7:c.14582+9_14582+10delinsTC	ENSP00000305941.3:n.14582+9_14582+10delinsTC
ENST00000674083.1:c.14582+9_14582+10delinsTC	ENSP00000501296.1:n.14582+9_14582+10delinsTC