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_000004.12:g.68669858del , CM000666.2:g.68669858del	GRCh38
NC_000004.11:g.69535576del , CM000666.1:g.69535576del	GRCh37
NC_000004.10:g.69218171del	NCBI36
NG_052676.1:g.5920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338206.6:c.724+38del MANE Select	ENSP00000341045.5:n.724+38del
ENST00000338206.5:c.724+38del	ENSP00000341045.5:n.724+38del
ENST00000616841.4:c.724+38del	ENSP00000482004.1:n.724+38del
NM_001076.3:c.724+38del	NP_001067.2:n.724+38del
NM_001076.4:c.724+38del MANE Select	NP_001067.2:n.724+38del