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_000003.12:g.81705632dup , CM000665.2:g.81705632dup	GRCh38
NC_000003.11:g.81754783dup , CM000665.1:g.81754783dup	GRCh37
NC_000003.10:g.81837473dup	NCBI36
NG_011810.1:g.61169dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.144-19dup MANE Select	ENSP00000410833.2:n.144-19dup
ENST00000429644.6:c.144-19dup	ENSP00000410833.2:n.144-19dup
ENST00000489715.1:c.21-19dup	ENSP00000419638.1:n.21-19dup
NM_000158.3:c.144-19dup	NP_000149.3:n.144-19dup
NM_000158.4:c.144-19dup MANE Select	NP_000149.4:n.144-19dup