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.202556544_202556545delinsAT , CM000664.2:g.202556544_202556545delinsAT	GRCh38
NC_000002.11:g.203421267_203421268delinsAT , CM000664.1:g.203421267_203421268delinsAT	GRCh37
NC_000002.10:g.203129512_203129513delinsAT	NCBI36
NG_009363.1:g.185218_185219delinsAT , LRG_712:g.185218_185219delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2866+13_2866+14delinsAT MANE Select	ENSP00000363708.4:n.2866+13_2866+14delinsAT
ENST00000638587.1:c.2797+13_2797+14delinsAT	ENSP00000491062.1:n.2797+13_2797+14delinsAT
ENST00000374574.2:c.1587-3152_1587-3151delinsAT	ENSP00000363702.2:n.1587-3152_1587-3151delinsAT
ENST00000374580.8:c.2866+13_2866+14delinsAT	ENSP00000363708.4:n.2866+13_2866+14delinsAT
NM_001204.6:c.2866+13_2866+14delinsAT , LRG_712t1:c.2866+13_2866+14delinsAT	NP_001195.2:n.2866+13_2866+14delinsAT
XM_011511687.1:c.2866+13_2866+14delinsAT	XP_011509989.1:n.2866+13_2866+14delinsAT
XM_011511688.1:c.1587-3152_1587-3151delinsAT	XP_011509990.1:n.1587-3152_1587-3151delinsAT
NM_001204.7:c.2866+13_2866+14delinsAT MANE Select	NP_001195.2:n.2866+13_2866+14delinsAT