Canonical Allele Identifier: CA2695200882

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2631220
• ClinVar RCV Id: RCV004527995

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957952_87957953delinsCC , CM000672.2:g.87957952_87957953delinsCC	GRCh38
NC_000010.10:g.89717709_89717710delinsCC , CM000672.1:g.89717709_89717710delinsCC	GRCh37
NC_000010.9:g.89707689_89707690delinsCC	NCBI36
NG_007466.2:g.99514_99515delinsCC , LRG_311:g.99514_99515delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.734_735delinsCC	ENSP00000514759.2:p.Gln245Pro
ENST00000710265.1:c.734_735delinsCC	ENSP00000518161.1:p.Gln245Pro
ENST00000472832.3:c.734_735delinsCC	ENSP00000483066.2:p.Gln245Pro
ENST00000688158.2:n.1469_1470delinsCC
ENST00000688922.2:c.*564_*565delinsCC	ENSP00000508742.2:n.*564_*565delinsCC
ENST00000700021.1:c.689_690delinsCC	ENSP00000514757.1:p.Gln230Pro
ENST00000700022.1:c.*73_*74delinsCC	ENSP00000514758.1:n.*73_*74delinsCC
ENST00000700023.1:n.1892_1893delinsCC
ENST00000700024.1:n.2126_2127delinsCC
ENST00000700025.1:n.1503_1504delinsCC
ENST00000700026.1:n.371_372delinsCC
ENST00000700029.1:c.568_569delinsCC
ENST00000706954.1:c.734_735delinsCC	ENSP00000516674.1:p.Gln245Pro
ENST00000706955.1:c.*769_*770delinsCC	ENSP00000516675.1:n.*769_*770delinsCC
ENST00000686459.1:c.*320_*321delinsCC	ENSP00000508909.1:n.*320_*321delinsCC
ENST00000688158.1:c.*845_*846delinsCC	ENSP00000509254.1:n.*845_*846delinsCC
ENST00000688308.1:c.734_735delinsCC	ENSP00000508752.1:p.Gln245Pro
ENST00000688922.1:c.655_656delinsCC
ENST00000693560.1:c.1253_1254delinsCC	ENSP00000509861.1:p.Gln418Pro
ENST00000371953.8:c.734_735delinsCC MANE Select	ENSP00000361021.3:p.Gln245Pro
ENST00000371953.7:c.734_735delinsCC	ENSP00000361021.3:p.Gln245Pro
ENST00000472832.2:c.161_162delinsCC	ENSP00000483066.1:p.Gln54Pro
NM_000314.5:c.734_735delinsCC	NP_000305.3:p.Gln245Pro
NM_000314.6:c.734_735delinsCC	NP_000305.3:p.Gln245Pro
NM_001304717.2:c.1253_1254delinsCC	NP_001291646.2:p.Gln418Pro
NM_001304718.1:c.143_144delinsCC	NP_001291647.1:p.Gln48Pro
XM_006717926.2:c.689_690delinsCC	XP_006717989.1:p.Gln230Pro
XM_011539981.1:c.734_735delinsCC	XP_011538283.1:p.Gln245Pro
XM_011539982.1:c.638_639delinsCC	XP_011538284.1:p.Gln213Pro
XR_945791.1:n.1304_1305delinsCC
NM_000314.7:c.734_735delinsCC	NP_000305.3:p.Gln245Pro
NM_001304717.5:c.1253_1254delinsCC	NP_001291646.4:p.Gln418Pro
NM_001304718.2:c.143_144delinsCC	NP_001291647.1:p.Gln48Pro
NM_000314.8:c.734_735delinsCC MANE Select	NP_000305.3:p.Gln245Pro