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_000004.12:g.55125367dup , CM000666.2:g.55125367dup	GRCh38
NC_000004.11:g.55991534dup , CM000666.1:g.55991534dup	GRCh37
NC_000004.10:g.55686291dup	NCBI36
NG_012004.1:g.5230dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263923.5:c.-73dup MANE Select	ENSP00000263923.4:n.-73dup
ENST00000263923.4:c.-73dup	ENSP00000263923.4:n.-73dup
NM_002253.2:c.-73dup	NP_002244.1:n.-73dup
NM_002253.3:c.-73dup	NP_002244.1:n.-73dup
NM_002253.4:c.-73dup MANE Select	NP_002244.1:n.-73dup