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_000023.11:g.78123463del , CM000685.2:g.78123463del	GRCh38
NC_000023.10:g.77378960del , CM000685.1:g.77378960del	GRCh37
NC_000023.9:g.77265616del	NCBI36
NG_008862.1:g.24295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373316.5:c.936+89del MANE Select	ENSP00000362413.4:n.936+89del
ENST00000644362.1:c.852+89del	ENSP00000496140.1:n.852+89del
ENST00000373316.4:c.936+89del	ENSP00000362413.4:n.936+89del
NM_000291.3:c.936+89del	NP_000282.1:n.936+89del
NM_000291.4:c.936+89del MANE Select	NP_000282.1:n.936+89del