Canonical Allele Identifier: CA645554115

Gene: PTEN

Linked Data

• ClinVar Variation Id: 648762
• ClinVar RCV Id: RCV000803564 ; RCV003453676 ; RCV004028145
• dbSNP Id: rs1589666094
• COSMIC: COSM86080

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961048_87961052del , CM000672.2:g.87961048_87961052del	GRCh38
NC_000010.10:g.89720805_89720809del , CM000672.1:g.89720805_89720809del	GRCh37
NC_000010.9:g.89710785_89710789del	NCBI36
NG_007466.2:g.102610_102614del , LRG_311:g.102610_102614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1049_1053del	ENSP00000514759.2:p.Thr350AsnfsTer4
ENST00000710265.1:c.956_960del	ENSP00000518161.1:p.Thr319AsnfsTer4
ENST00000472832.3:c.956_960del	ENSP00000483066.2:p.Thr319AsnfsTer4
ENST00000688158.2:n.1691_1695del
ENST00000688922.2:c.*786_*790del	ENSP00000508742.2:n.*786_*790del
ENST00000700021.1:c.911_915del	ENSP00000514757.1:p.Thr304AsnfsTer4
ENST00000700022.1:c.*295_*299del	ENSP00000514758.1:n.*295_*299del
ENST00000700023.1:n.2114_2118del
ENST00000700024.1:n.2348_2352del
ENST00000700025.1:n.1725_1729del
ENST00000700026.1:n.593_597del
ENST00000706954.1:c.956_960del	ENSP00000516674.1:p.Thr319AsnfsTer4
ENST00000706955.1:c.*991_*995del	ENSP00000516675.1:n.*991_*995del
ENST00000686459.1:c.*542_*546del	ENSP00000508909.1:n.*542_*546del
ENST00000688158.1:c.*1067_*1071del	ENSP00000509254.1:n.*1067_*1071del
ENST00000688308.1:c.956_960del	ENSP00000508752.1:p.Thr319AsnfsTer4
ENST00000688922.1:c.877_881del
ENST00000693560.1:c.1475_1479del	ENSP00000509861.1:p.Thr492AsnfsTer4
ENST00000371953.8:c.956_960del MANE Select	ENSP00000361021.3:p.Thr319AsnfsTer4
ENST00000371953.7:c.956_960del	ENSP00000361021.3:p.Thr319AsnfsTer4
ENST00000472832.2:c.383_387del	ENSP00000483066.1:p.Thr128AsnfsTer4
NM_000314.5:c.956_960del	NP_000305.3:p.Thr319AsnfsTer4
NM_000314.6:c.956_960del	NP_000305.3:p.Thr319AsnfsTer4
NM_001304717.2:c.1475_1479del	NP_001291646.2:p.Thr492AsnfsTer4
NM_001304718.1:c.365_369del	NP_001291647.1:p.Thr122AsnfsTer4
XM_006717926.2:c.911_915del	XP_006717989.1:p.Thr304AsnfsTer4
XM_011539981.1:c.956_960del	XP_011538283.1:p.Thr319AsnfsTer4
XM_011539982.1:c.860_864del	XP_011538284.1:p.Thr287AsnfsTer4
XR_945791.1:n.1526_1530del
NM_000314.7:c.956_960del	NP_000305.3:p.Thr319AsnfsTer4
NM_001304717.5:c.1475_1479del	NP_001291646.4:p.Thr492AsnfsTer4
NM_001304718.2:c.365_369del	NP_001291647.1:p.Thr122AsnfsTer4
NM_000314.8:c.956_960del MANE Select	NP_000305.3:p.Thr319AsnfsTer4