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.80108795_80108885del , CM000679.2:g.80108795_80108885del	GRCh38
NC_000017.10:g.78082594_78082684del , CM000679.1:g.78082594_78082684del	GRCh37
NC_000017.9:g.75697189_75697279del	NCBI36
NG_009822.1:g.12240_12330del , LRG_673:g.12240_12330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1293_1326+57del
ENST00000572080.2:c.1293_1326+57del
ENST00000577106.6:c.1293_1326+57del
ENST00000302262.8:c.1293_1326+57del
ENST00000302262.7:c.1293_1326+57del
ENST00000390015.7:c.1293_1326+57del
NM_000152.3:c.1293_1326+57del , LRG_673t1:c.1293_1326+57del
NM_001079803.1:c.1293_1326+57del
NM_001079804.1:c.1293_1326+57del
XM_005257193.1:c.1293_1326+57del
XM_005257194.3:c.1293_1326+57del
NM_000152.4:c.1293_1326+57del
NM_001079803.2:c.1293_1326+57del
NM_001079804.2:c.1293_1326+57del
XM_005257193.2:c.1293_1326+57del
XM_005257194.4:c.1293_1326+57del
NM_000152.5:c.1293_1326+57del
NM_001079803.3:c.1293_1326+57del
NM_001079804.3:c.1293_1326+57del