Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108283_80108290delinsCTTCCAGA , CM000679.2:g.80108283_80108290delinsCTTCCAGA	GRCh38
NC_000017.10:g.78082082_78082089delinsCTTCCAGA , CM000679.1:g.78082082_78082089delinsCTTCCAGA	GRCh37
NC_000017.9:g.75696677_75696684delinsCTTCCAGA	NCBI36
NG_009822.1:g.11728_11735delinsCTTCCAGA , LRG_673:g.11728_11735delinsCTTCCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.956-7_956delinsCTTCCAGA
ENST00000572080.2:c.956-7_956delinsCTTCCAGA
ENST00000577106.6:c.956-7_956delinsCTTCCAGA
ENST00000302262.8:c.956-7_956delinsCTTCCAGA
ENST00000302262.7:c.956-7_956delinsCTTCCAGA
ENST00000390015.7:c.956-7_956delinsCTTCCAGA
NM_000152.3:c.956-7_956delinsCTTCCAGA , LRG_673t1:c.956-7_956delinsCTTCCAGA
NM_001079803.1:c.956-7_956delinsCTTCCAGA
NM_001079804.1:c.956-7_956delinsCTTCCAGA
XM_005257193.1:c.956-7_956delinsCTTCCAGA
XM_005257194.3:c.956-7_956delinsCTTCCAGA
NM_000152.4:c.956-7_956delinsCTTCCAGA
NM_001079803.2:c.956-7_956delinsCTTCCAGA
NM_001079804.2:c.956-7_956delinsCTTCCAGA
XM_005257193.2:c.956-7_956delinsCTTCCAGA
XM_005257194.4:c.956-7_956delinsCTTCCAGA
NM_000152.5:c.956-7_956delinsCTTCCAGA
NM_001079803.3:c.956-7_956delinsCTTCCAGA
NM_001079804.3:c.956-7_956delinsCTTCCAGA