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_000002.12:g.47783028_47783029delinsTC , CM000664.2:g.47783028_47783029delinsTC	GRCh38
NC_000002.11:g.48010167_48010168delinsTC , CM000664.1:g.48010167_48010168delinsTC	GRCh37
NC_000002.10:g.47863671_47863672delinsTC	NCBI36
NG_007111.1:g.4882_4883delinsTC , LRG_219:g.4882_4883delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7899_-37-7898delinsTC	ENSP00000498629.1:n.-37-7899_-37-7898delinsTC
ENST00000606499.1:c.-37-7899_-37-7898delinsTC	ENSP00000475605.1:n.-37-7899_-37-7898delinsTC