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.87863635C= , CM000672.2:g.87863635C=	GRCh38
NC_000010.10:g.89623392C= , CM000672.1:g.89623392C=	GRCh37
NC_000010.9:g.89613372C=	NCBI36
NG_007466.2:g.5198C= , LRG_311:g.5198C=
NG_033079.1:g.4803G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.-835C= (PTEN)	ENSP00000514759.2:n.-835C=
ENST00000710265.1:c.-835C= (PTEN)	ENSP00000518161.1:n.-835C=
ENST00000706954.1:c.-16-819C= (PTEN)	ENSP00000516674.1:n.-16-819C=
ENST00000706955.1:c.-835C= (PTEN)	ENSP00000516675.1:n.-835C=
ENST00000688158.1:c.-835C= (PTEN)	ENSP00000509254.1:n.-835C=
ENST00000688308.1:c.-17+522C= (PTEN)	ENSP00000508752.1:n.-17+522C=
ENST00000692337.1:c.77C= (MLDHR)	ENSP00000509326.1:p.Ser26=
ENST00000693560.1:c.-315C= (PTEN)	ENSP00000509861.1:n.-315C=
ENST00000371953.8:c.-835C= (PTEN) MANE Select	ENSP00000361021.3:n.-835C=
ENST00000371953.7:c.-835C= (PTEN)	ENSP00000361021.3:n.-835C=
ENST00000610634.1:c.-937C= (PTEN)	ENSP00000477517.1:n.-937C=
NM_000314.5:c.-834C= (PTEN)	NP_000305.3:n.-834C=
NM_000314.6:c.-834C= (PTEN)	NP_000305.3:n.-834C=
NM_001304717.2:c.-315C= (PTEN)	NP_001291646.2:n.-315C=
NM_001304718.1:c.-1539C= (PTEN)	NP_001291647.1:n.-1539C=
NM_000314.7:c.-834C= (PTEN)	NP_000305.3:n.-834C=
NM_001304717.5:c.-315C= (PTEN)	NP_001291646.4:n.-315C=
NM_001304718.2:c.-1539C= (PTEN)	NP_001291647.1:n.-1539C=
NM_000314.8:c.-835C= (PTEN) MANE Select	NP_000305.3:n.-835C=