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_000010.11:g.17849896_17849897delinsGA , CM000672.2:g.17849896_17849897delinsGA	GRCh38
NG_047011.1:g.45554_45555delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000569591.3:c.1249+132_1249+133delinsGA MANE Select	ENSP00000455897.1:n.1249+132_1249+133delinsGA
ENST00000569591.2:c.1249+132_1249+133delinsGA	ENSP00000455897.1:n.1249+132_1249+133delinsGA
NM_002438.3:c.1249+132_1249+133delinsGA	NP_002429.1:n.1249+132_1249+133delinsGA
NM_002438.4:c.1249+132_1249+133delinsGA MANE Select	NP_002429.1:n.1249+132_1249+133delinsGA