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_000017.11:g.8012442del , CM000679.2:g.8012442del	GRCh38
NC_000017.10:g.7915760del , CM000679.1:g.7915760del	GRCh37
NC_000017.9:g.7856485del	NCBI36
NG_009092.1:g.14773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1957-8del MANE Select	ENSP00000254854.4:n.1957-8del
ENST00000254854.4:c.1957-8del	ENSP00000254854.4:n.1957-8del
NM_000180.3:c.1957-8del	NP_000171.1:n.1957-8del
XM_011523816.1:c.1957-8del	XP_011522118.1:n.1957-8del
NM_000180.4:c.1957-8del MANE Select	NP_000171.1:n.1957-8del