Canonical Allele Identifier: CA2695200902

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673942
• ClinVar RCV Id: RCV003450552

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960968_87960972del , CM000672.2:g.87960968_87960972del	GRCh38
NC_000010.10:g.89720725_89720729del , CM000672.1:g.89720725_89720729del	GRCh37
NC_000010.9:g.89710705_89710709del	NCBI36
NG_007466.2:g.102530_102534del , LRG_311:g.102530_102534del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.969_973del	ENSP00000514759.2:p.Asn323LysfsTer4
ENST00000710265.1:c.876_880del	ENSP00000518161.1:p.Asn292LysfsTer4
ENST00000472832.3:c.876_880del	ENSP00000483066.2:p.Asn292LysfsTer4
ENST00000688158.2:n.1611_1615del
ENST00000688922.2:c.*706_*710del	ENSP00000508742.2:n.*706_*710del
ENST00000700021.1:c.831_835del	ENSP00000514757.1:p.Asn277LysfsTer4
ENST00000700022.1:c.*215_*219del	ENSP00000514758.1:n.*215_*219del
ENST00000700023.1:n.2034_2038del
ENST00000700024.1:n.2268_2272del
ENST00000700025.1:n.1645_1649del
ENST00000700026.1:n.513_517del
ENST00000706954.1:c.876_880del	ENSP00000516674.1:p.Asn292LysfsTer4
ENST00000706955.1:c.*911_*915del	ENSP00000516675.1:n.*911_*915del
ENST00000686459.1:c.*462_*466del	ENSP00000508909.1:n.*462_*466del
ENST00000688158.1:c.*987_*991del	ENSP00000509254.1:n.*987_*991del
ENST00000688308.1:c.876_880del	ENSP00000508752.1:p.Asn292LysfsTer4
ENST00000688922.1:c.797_801del
ENST00000693560.1:c.1395_1399del	ENSP00000509861.1:p.Asn465LysfsTer4
ENST00000371953.8:c.876_880del MANE Select	ENSP00000361021.3:p.Asn292LysfsTer4
ENST00000371953.7:c.876_880del	ENSP00000361021.3:p.Asn292LysfsTer4
ENST00000472832.2:c.303_307del	ENSP00000483066.1:p.Asn101LysfsTer4
NM_000314.5:c.876_880del	NP_000305.3:p.Asn292LysfsTer4
NM_000314.6:c.876_880del	NP_000305.3:p.Asn292LysfsTer4
NM_001304717.2:c.1395_1399del	NP_001291646.2:p.Asn465LysfsTer4
NM_001304718.1:c.285_289del	NP_001291647.1:p.Asn95LysfsTer4
XM_006717926.2:c.831_835del	XP_006717989.1:p.Asn277LysfsTer4
XM_011539981.1:c.876_880del	XP_011538283.1:p.Asn292LysfsTer4
XM_011539982.1:c.780_784del	XP_011538284.1:p.Asn260LysfsTer4
XR_945791.1:n.1446_1450del
NM_000314.7:c.876_880del	NP_000305.3:p.Asn292LysfsTer4
NM_001304717.5:c.1395_1399del	NP_001291646.4:p.Asn465LysfsTer4
NM_001304718.2:c.285_289del	NP_001291647.1:p.Asn95LysfsTer4
NM_000314.8:c.876_880del MANE Select	NP_000305.3:p.Asn292LysfsTer4