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.40784079_40784150del , CM000663.2:g.40784079_40784150del	GRCh38
NC_000001.10:g.41249751_41249822del , CM000663.1:g.41249751_41249822del	GRCh37
NC_000001.9:g.41022338_41022409del	NCBI36
NG_008139.1:g.5068_5139del
NG_008139.2:g.5068_5139del
NG_008139.3:g.5293_5364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-15_57del
ENST00000347132.9:c.-15_57del
NM_004700.3:c.-15_57del
NM_172163.2:c.-15_57del
NM_004700.4:c.-15_57del
NM_172163.3:c.-15_57del