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_000001.11:g.94111646dup , CM000663.2:g.94111646dup	GRCh38
NC_000001.10:g.94577202dup , CM000663.1:g.94577202dup	GRCh37
NC_000001.9:g.94349790dup	NCBI36
NG_009073.1:g.14504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-67dup MANE Select	ENSP00000359245.3:n.161-67dup
ENST00000649773.1:c.161-67dup	ENSP00000496882.1:n.161-67dup
ENST00000370225.3:c.161-67dup	ENSP00000359245.3:n.161-67dup
NM_000350.2:c.161-67dup	NP_000341.2:n.161-67dup
NM_000350.3:c.161-67dup MANE Select	NP_000341.2:n.161-67dup