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_000015.10:g.48468547_48468548insCACCCAACACA , CM000677.2:g.48468547_48468548insCACCCAACACA	GRCh38
NC_000015.9:g.48760744_48760745insCACCCAACACA , CM000677.1:g.48760744_48760745insCACCCAACACA	GRCh37
NC_000015.8:g.46548036_46548037insCACCCAACACA	NCBI36
NG_008805.2:g.182244_182245insGTTGGGTGTGT , LRG_778:g.182244_182245insGTTGGGTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4460-11_4460-10insGTTGGGTGTGT	ENSP00000453958.2:n.4460-11_4460-10insGTTGGGTGTGT
ENST00000674301.2:c.4460-11_4460-10insGTTGGGTGTGT	ENSP00000501333.2:n.4460-11_4460-10insGTTGGGTGTGT
ENST00000684448.1:n.3134-11_3134-10insGTTGGGTGTGT
ENST00000316623.10:c.4460-11_4460-10insGTTGGGTGTGT MANE Select	ENSP00000325527.5:n.4460-11_4460-10insGTTGGGTGTGT
ENST00000316623.9:c.4460-11_4460-10insGTTGGGTGTGT	ENSP00000325527.5:n.4460-11_4460-10insGTTGGGTGTGT
ENST00000537463.6:c.223-11_223-10insGTTGGGTGTGT	ENSP00000440294.2:n.223-11_223-10insGTTGGGTGTGT
NM_000138.4:c.4460-11_4460-10insGTTGGGTGTGT , LRG_778t1:c.4460-11_4460-10insGTTGGGTGTGT	NP_000129.3:n.4460-11_4460-10insGTTGGGTGTGT
NM_000138.5:c.4460-11_4460-10insGTTGGGTGTGT MANE Select	NP_000129.3:n.4460-11_4460-10insGTTGGGTGTGT