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_000010.11:g.87863644T= , CM000672.2:g.87863644T=	GRCh38
NC_000010.10:g.89623401T= , CM000672.1:g.89623401T=	GRCh37
NC_000010.9:g.89613381T=	NCBI36
NG_007466.2:g.5207T= , LRG_311:g.5207T=
NG_033079.1:g.4794A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.-826T= (PTEN)	ENSP00000514759.2:n.-826T=
ENST00000710265.1:c.-826T= (PTEN)	ENSP00000518161.1:n.-826T=
ENST00000706954.1:c.-16-810T= (PTEN)	ENSP00000516674.1:n.-16-810T=
ENST00000706955.1:c.-826T= (PTEN)	ENSP00000516675.1:n.-826T=
ENST00000688158.1:c.-826T= (PTEN)	ENSP00000509254.1:n.-826T=
ENST00000688308.1:c.-17+531T= (PTEN)	ENSP00000508752.1:n.-17+531T=
ENST00000692337.1:c.86T= (MLDHR)	ENSP00000509326.1:p.Leu29=
ENST00000693560.1:c.-306T= (PTEN)	ENSP00000509861.1:n.-306T=
ENST00000371953.8:c.-826T= (PTEN) MANE Select	ENSP00000361021.3:n.-826T=
ENST00000371953.7:c.-826T= (PTEN)	ENSP00000361021.3:n.-826T=
ENST00000610634.1:c.-928T= (PTEN)	ENSP00000477517.1:n.-928T=
NM_000314.5:c.-825T= (PTEN)	NP_000305.3:n.-825T=
NM_000314.6:c.-825T= (PTEN)	NP_000305.3:n.-825T=
NM_001304717.2:c.-306T= (PTEN)	NP_001291646.2:n.-306T=
NM_001304718.1:c.-1530T= (PTEN)	NP_001291647.1:n.-1530T=
NM_000314.7:c.-825T= (PTEN)	NP_000305.3:n.-825T=
NM_001304717.5:c.-306T= (PTEN)	NP_001291646.4:n.-306T=
NM_001304718.2:c.-1530T= (PTEN)	NP_001291647.1:n.-1530T=
NM_000314.8:c.-826T= (PTEN) MANE Select	NP_000305.3:n.-826T=