This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA2788895111
Gene: PTEN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87864138T>A , CM000672.2:g.87864138T>A GRCh38
NC_000010.10:g.89623895T>A , CM000672.1:g.89623895T>A GRCh37
NC_000010.9:g.89613875T>A NCBI36
NG_007466.2:g.5700T>A , LRG_311:g.5700T>A
NG_033079.1:g.4300A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-332T>A ENSP00000514759.2:n.-332T>A
ENST00000710265.1:c.-332T>A ENSP00000518161.1:n.-332T>A
ENST00000700021.1:c.-332T>A ENSP00000514757.1:n.-332T>A
ENST00000700022.1:c.-332T>A ENSP00000514758.1:n.-332T>A
ENST00000706954.1:c.-16-316T>A ENSP00000516674.1:n.-16-316T>A
ENST00000706955.1:c.-332T>A ENSP00000516675.1:n.-332T>A
ENST00000688158.1:c.-332T>A ENSP00000509254.1:n.-332T>A
ENST00000688308.1:c.-16-316T>A ENSP00000508752.1:n.-16-316T>A
ENST00000693560.1:c.188T>A ENSP00000509861.1:p.Leu63His
ENST00000371953.8:c.-332T>A MANE Select ENSP00000361021.3:n.-332T>A
ENST00000371953.7:c.-332T>A ENSP00000361021.3:n.-332T>A
ENST00000610634.1:c.-434T>A ENSP00000477517.1:n.-434T>A
NM_000314.5:c.-332T>A NP_000305.3:n.-332T>A
NM_000314.6:c.-332T>A NP_000305.3:n.-332T>A
NM_001304717.2:c.188T>A NP_001291646.2:p.Leu63His
NM_001304718.1:c.-1037T>A NP_001291647.1:n.-1037T>A
XM_006717926.2:c.-332T>A XP_006717989.1:n.-332T>A
XM_011539981.1:c.-332T>A XP_011538283.1:n.-332T>A
XR_945789.1:n.381T>A
XR_945790.1:n.381T>A
XR_945791.1:n.381T>A
NM_000314.7:c.-332T>A NP_000305.3:n.-332T>A
NM_001304717.5:c.188T>A NP_001291646.4:p.Leu63His
NM_001304718.2:c.-1037T>A NP_001291647.1:n.-1037T>A
NM_000314.8:c.-332T>A MANE Select NP_000305.3:n.-332T>A
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