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_000002.12:g.202530773_202530791delinsTATTTGAAATTATCCAAAC , CM000664.2:g.202530773_202530791delinsTATTTGAAATTATCCAAAC	GRCh38
NC_000002.11:g.203395496_203395514delinsTATTTGAAATTATCCAAAC , CM000664.1:g.203395496_203395514delinsTATTTGAAATTATCCAAAC	GRCh37
NC_000002.10:g.203103741_203103759delinsTATTTGAAATTATCCAAAC	NCBI36
NG_009363.1:g.159447_159465delinsTATTTGAAATTATCCAAAC , LRG_712:g.159447_159465delinsTATTTGAAATTATCCAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.968-21_968-3delinsTATTTGAAATTATCCAAAC MANE Select	ENSP00000363708.4:n.968-21_968-3delinsTATTTGAAATTATCCAAAC
ENST00000638587.1:c.899-21_899-3delinsTATTTGAAATTATCCAAAC	ENSP00000491062.1:n.899-21_899-3delinsTATTTGAAATTATCCAAAC
ENST00000374574.2:c.968-21_968-3delinsTATTTGAAATTATCCAAAC	ENSP00000363702.2:n.968-21_968-3delinsTATTTGAAATTATCCAAAC
ENST00000374580.8:c.968-21_968-3delinsTATTTGAAATTATCCAAAC	ENSP00000363708.4:n.968-21_968-3delinsTATTTGAAATTATCCAAAC
NM_001204.6:c.968-21_968-3delinsTATTTGAAATTATCCAAAC , LRG_712t1:c.968-21_968-3delinsTATTTGAAATTATCCAAAC	NP_001195.2:n.968-21_968-3delinsTATTTGAAATTATCCAAAC
XM_011511687.1:c.968-21_968-3delinsTATTTGAAATTATCCAAAC	XP_011509989.1:n.968-21_968-3delinsTATTTGAAATTATCCAAAC
XM_011511688.1:c.968-21_968-3delinsTATTTGAAATTATCCAAAC	XP_011509990.1:n.968-21_968-3delinsTATTTGAAATTATCCAAAC
NM_001204.7:c.968-21_968-3delinsTATTTGAAATTATCCAAAC MANE Select	NP_001195.2:n.968-21_968-3delinsTATTTGAAATTATCCAAAC