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_000005.10:g.136046506del , CM000667.2:g.136046506del	GRCh38
NC_000005.9:g.135382195del , CM000667.1:g.135382195del	GRCh37
NC_000005.8:g.135410094del	NCBI36
NG_012646.1:g.22612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.459+11del MANE Select	ENSP00000416330.2:n.459+11del
ENST00000442011.6:c.459+11del	ENSP00000416330.2:n.459+11del
ENST00000506699.5:n.535del
ENST00000507018.5:c.387del
ENST00000515433.1:n.762del
NM_000358.2:c.459+11del	NP_000349.1:n.459+11del
NM_000358.3:c.459+11del MANE Select	NP_000349.1:n.459+11del