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_000019.10:g.11116995_11120093del , CM000681.2:g.11116995_11120093del	GRCh38
NC_000019.9:g.11227671_11230769del , CM000681.1:g.11227671_11230769del	GRCh37
NC_000019.8:g.11088671_11091769del	NCBI36
NG_009060.1:g.32615_35713del , LRG_274:g.32615_35713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2100_2105del
ENST00000559340.2:c.1705+783_1707del
ENST00000560467.2:c.1722_1727del
ENST00000558518.6:c.1842_1847del
ENST00000252444.9:c.2096_2101del
ENST00000455727.6:c.1338_1343del
ENST00000535915.5:c.1719_1724del
ENST00000545707.5:c.1461_1466del
ENST00000557933.5:c.1842_1847del
ENST00000558013.5:c.1842_1847del
ENST00000558518.5:c.1842_1847del
ENST00000559340.1:c.426+783_428del
NM_000527.4:c.1842_1847del , LRG_274t1:c.1842_1847del
NM_001195798.1:c.1842_1847del
NM_001195799.1:c.1719_1724del
NM_001195800.1:c.1338_1343del
NM_001195803.1:c.1461_1466del
XM_011528010.1:c.1842_1847del
XM_011528011.1:c.1461_1466del
XR_244074.2:n.1855+783_1857del
XM_011528010.2:c.1842_1847del
XR_001753685.2:n.1959_1964del
XR_001753686.2:n.1822+783_1824del
NM_000527.5:c.1842_1847del
NM_001195798.2:c.1842_1847del
NM_001195799.2:c.1719_1724del
NM_001195800.2:c.1338_1343del
NM_001195803.2:c.1461_1466del