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.114709553del , CM000663.2:g.114709553del	GRCh38
NC_000001.10:g.115252174del , CM000663.1:g.115252174del	GRCh37
NC_000001.9:g.115053697del	NCBI36
NG_007572.1:g.12342del , LRG_92:g.12342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369535.5:c.450+16del MANE Select	ENSP00000358548.4:n.450+16del
ENST00000369535.4:c.450+16del	ENSP00000358548.4:n.450+16del
NM_002524.4:c.450+16del	NP_002515.1:n.450+16del
NM_002524.5:c.450+16del MANE Select	NP_002515.1:n.450+16del