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_000018.10:g.58449660_58449666delinsATGCCTG , CM000680.2:g.58449660_58449666delinsATGCCTG	GRCh38
NC_000018.9:g.56116892_56116898delinsATGCCTG , CM000680.1:g.56116892_56116898delinsATGCCTG	GRCh37
NC_000018.8:g.54267872_54267878delinsATGCCTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001753465.2:n.899_905delinsATGCCTG
NR_170243.1:n.307+120_307+126delinsATGCCTG
NR_170244.1:n.307+120_307+126delinsATGCCTG
NR_170245.1:n.307+120_307+126delinsATGCCTG