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_000003.12:g.129529270_129529271insC , CM000665.2:g.129529270_129529271insC	GRCh38
NC_000003.11:g.129248113_129248114insC , CM000665.1:g.129248113_129248114insC	GRCh37
NC_000003.10:g.130730803_130730804insC	NCBI36
NG_009115.1:g.5632_5633insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.361+176_361+177insC MANE Select	ENSP00000296271.3:n.361+176_361+177insC
ENST00000296271.3:c.361+176_361+177insC	ENSP00000296271.3:n.361+176_361+177insC
NM_000539.3:c.361+176_361+177insC MANE Select	NP_000530.1:n.361+176_361+177insC