Canonical Allele Identifier: CA2499220467

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1072116
• ClinVar RCV Id: RCV001384748
• dbSNP Id: rs2132276430

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957859del , CM000672.2:g.87957859del	GRCh38
NC_000010.10:g.89717616del , CM000672.1:g.89717616del	GRCh37
NC_000010.9:g.89707596del	NCBI36
NG_007466.2:g.99421del , LRG_311:g.99421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.641del	ENSP00000514759.2:p.Gln214ArgfsTer7
ENST00000710265.1:c.641del	ENSP00000518161.1:p.Gln214ArgfsTer7
ENST00000472832.3:c.641del	ENSP00000483066.2:p.Gln214ArgfsTer7
ENST00000688158.2:n.1376del
ENST00000688922.2:c.*471del	ENSP00000508742.2:n.*471del
ENST00000700021.1:c.596del	ENSP00000514757.1:p.Gln199ArgfsTer7
ENST00000700022.1:c.499del	ENSP00000514758.1:p.Ser167ValfsTer28
ENST00000700023.1:n.1799del
ENST00000700024.1:n.2033del
ENST00000700025.1:n.1410del
ENST00000700026.1:n.278del
ENST00000700029.1:c.475del
ENST00000706954.1:c.641del	ENSP00000516674.1:p.Gln214ArgfsTer7
ENST00000706955.1:c.*676del	ENSP00000516675.1:n.*676del
ENST00000686459.1:c.*227del	ENSP00000508909.1:n.*227del
ENST00000688158.1:c.*752del	ENSP00000509254.1:n.*752del
ENST00000688308.1:c.641del	ENSP00000508752.1:p.Gln214ArgfsTer7
ENST00000688922.1:c.562del
ENST00000693560.1:c.1160del	ENSP00000509861.1:p.Gln387ArgfsTer7
ENST00000371953.8:c.641del MANE Select	ENSP00000361021.3:p.Gln214ArgfsTer7
ENST00000371953.7:c.641del	ENSP00000361021.3:p.Gln214ArgfsTer7
ENST00000472832.2:c.68del	ENSP00000483066.1:p.Gln23ArgfsTer7
NM_000314.5:c.641del	NP_000305.3:p.Gln214ArgfsTer7
NM_000314.6:c.641del	NP_000305.3:p.Gln214ArgfsTer7
NM_001304717.2:c.1160del	NP_001291646.2:p.Gln387ArgfsTer7
NM_001304718.1:c.50del	NP_001291647.1:p.Gln17ArgfsTer7
XM_006717926.2:c.596del	XP_006717989.1:p.Gln199ArgfsTer7
XM_011539981.1:c.641del	XP_011538283.1:p.Gln214ArgfsTer7
XM_011539982.1:c.545del	XP_011538284.1:p.Gln182ArgfsTer7
XR_945791.1:n.1211del
NM_000314.7:c.641del	NP_000305.3:p.Gln214ArgfsTer7
NM_001304717.5:c.1160del	NP_001291646.4:p.Gln387ArgfsTer7
NM_001304718.2:c.50del	NP_001291647.1:p.Gln17ArgfsTer7
NM_000314.8:c.641del MANE Select	NP_000305.3:p.Gln214ArgfsTer7