Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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This migration is underway but taking longer than originally estimated.

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863642G= , CM000672.2:g.87863642G=	GRCh38
NC_000010.10:g.89623399G= , CM000672.1:g.89623399G=	GRCh37
NC_000010.9:g.89613379G=	NCBI36
NG_007466.2:g.5205G= , LRG_311:g.5205G=
NG_033079.1:g.4796C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.-828G= (PTEN)	ENSP00000514759.2:n.-828G=
ENST00000710265.1:c.-828G= (PTEN)	ENSP00000518161.1:n.-828G=
ENST00000706954.1:c.-16-812G= (PTEN)	ENSP00000516674.1:n.-16-812G=
ENST00000706955.1:c.-828G= (PTEN)	ENSP00000516675.1:n.-828G=
ENST00000688158.1:c.-828G= (PTEN)	ENSP00000509254.1:n.-828G=
ENST00000688308.1:c.-17+529G= (PTEN)	ENSP00000508752.1:n.-17+529G=
ENST00000692337.1:c.84G= (MLDHR)	ENSP00000509326.1:p.Lys28=
ENST00000693560.1:c.-308G= (PTEN)	ENSP00000509861.1:n.-308G=
ENST00000371953.8:c.-828G= (PTEN) MANE Select	ENSP00000361021.3:n.-828G=
ENST00000371953.7:c.-828G= (PTEN)	ENSP00000361021.3:n.-828G=
ENST00000610634.1:c.-930G= (PTEN)	ENSP00000477517.1:n.-930G=
NM_000314.5:c.-827G= (PTEN)	NP_000305.3:n.-827G=
NM_000314.6:c.-827G= (PTEN)	NP_000305.3:n.-827G=
NM_001304717.2:c.-308G= (PTEN)	NP_001291646.2:n.-308G=
NM_001304718.1:c.-1532G= (PTEN)	NP_001291647.1:n.-1532G=
NM_000314.7:c.-827G= (PTEN)	NP_000305.3:n.-827G=
NM_001304717.5:c.-308G= (PTEN)	NP_001291646.4:n.-308G=
NM_001304718.2:c.-1532G= (PTEN)	NP_001291647.1:n.-1532G=
NM_000314.8:c.-828G= (PTEN) MANE Select	NP_000305.3:n.-828G=