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.87863637C= , CM000672.2:g.87863637C=	GRCh38
NC_000010.10:g.89623394C= , CM000672.1:g.89623394C=	GRCh37
NC_000010.9:g.89613374C=	NCBI36
NG_007466.2:g.5200C= , LRG_311:g.5200C=
NG_033079.1:g.4801G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.-833C= (PTEN)	ENSP00000514759.2:n.-833C=
ENST00000710265.1:c.-833C= (PTEN)	ENSP00000518161.1:n.-833C=
ENST00000706954.1:c.-16-817C= (PTEN)	ENSP00000516674.1:n.-16-817C=
ENST00000706955.1:c.-833C= (PTEN)	ENSP00000516675.1:n.-833C=
ENST00000688158.1:c.-833C= (PTEN)	ENSP00000509254.1:n.-833C=
ENST00000688308.1:c.-17+524C= (PTEN)	ENSP00000508752.1:n.-17+524C=
ENST00000692337.1:c.79C= (MLDHR)	ENSP00000509326.1:p.Arg27=
ENST00000693560.1:c.-313C= (PTEN)	ENSP00000509861.1:n.-313C=
ENST00000371953.8:c.-833C= (PTEN) MANE Select	ENSP00000361021.3:n.-833C=
ENST00000371953.7:c.-833C= (PTEN)	ENSP00000361021.3:n.-833C=
ENST00000610634.1:c.-935C= (PTEN)	ENSP00000477517.1:n.-935C=
NM_000314.5:c.-832C= (PTEN)	NP_000305.3:n.-832C=
NM_000314.6:c.-832C= (PTEN)	NP_000305.3:n.-832C=
NM_001304717.2:c.-313C= (PTEN)	NP_001291646.2:n.-313C=
NM_001304718.1:c.-1537C= (PTEN)	NP_001291647.1:n.-1537C=
NM_000314.7:c.-832C= (PTEN)	NP_000305.3:n.-832C=
NM_001304717.5:c.-313C= (PTEN)	NP_001291646.4:n.-313C=
NM_001304718.2:c.-1537C= (PTEN)	NP_001291647.1:n.-1537C=
NM_000314.8:c.-833C= (PTEN) MANE Select	NP_000305.3:n.-833C=