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.94041205del , CM000663.2:g.94041205del	GRCh38
NC_000001.10:g.94506761del , CM000663.1:g.94506761del	GRCh37
NC_000001.9:g.94279349del	NCBI36
NG_009073.1:g.84946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3522+5del MANE Select	ENSP00000359245.3:n.3522+5del
ENST00000370225.3:c.3522+5del	ENSP00000359245.3:n.3522+5del
ENST00000536513.5:c.-64-1115del	ENSP00000439707.2:n.-64-1115del
NM_000350.2:c.3522+5del	NP_000341.2:n.3522+5del
NM_000350.3:c.3522+5del MANE Select	NP_000341.2:n.3522+5del