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_000019.10:g.1401426dup , CM000681.2:g.1401426dup	GRCh38
NC_000019.9:g.1401425dup , CM000681.1:g.1401425dup	GRCh37
NC_000019.8:g.1352425dup	NCBI36
NG_009785.1:g.5131dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.54dup MANE Select	ENSP00000252288.1:p.Ala19ArgfsTer?
ENST00000447102.8:c.54dup	ENSP00000403536.2:p.Ala19ArgfsTer?
ENST00000640762.1:c.54dup	ENSP00000492031.1:p.Ala19ArgfsTer?
ENST00000252288.6:c.54dup	ENSP00000252288.1:p.Ala19ArgfsTer?
ENST00000447102.7:c.54dup	ENSP00000403536.2:p.Ala19ArgfsTer?
NM_000156.5:c.54dup	NP_000147.1:p.Ala19ArgfsTer?
NM_138924.2:c.54dup	NP_620279.1:p.Ala19ArgfsTer?
NM_000156.6:c.54dup MANE Select	NP_000147.1:p.Ala19ArgfsTer?
NM_138924.3:c.54dup	NP_620279.1:p.Ala19ArgfsTer?