Canonical Allele Identifier: CA923726176

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1699144
• ClinVar RCV Id: RCV002273001
• dbSNP Id: rs2132276566

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957876_87957877dup , CM000672.2:g.87957876_87957877dup	GRCh38
NC_000010.10:g.89717633_89717634dup , CM000672.1:g.89717633_89717634dup	GRCh37
NC_000010.9:g.89707613_89707614dup	NCBI36
NG_007466.2:g.99438_99439dup , LRG_311:g.99438_99439dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.658_659dup	ENSP00000514759.2:p.Lys221Ter
ENST00000710265.1:c.658_659dup	ENSP00000518161.1:p.Lys221Ter
ENST00000472832.3:c.658_659dup	ENSP00000483066.2:p.Lys221Ter
ENST00000688158.2:n.1393_1394dup
ENST00000688922.2:c.*488_*489dup	ENSP00000508742.2:n.*488_*489dup
ENST00000700021.1:c.613_614dup	ENSP00000514757.1:p.Lys206Ter
ENST00000700022.1:c.516_517dup	ENSP00000514758.1:p.Ter173SerextTer23
ENST00000700023.1:n.1816_1817dup
ENST00000700024.1:n.2050_2051dup
ENST00000700025.1:n.1427_1428dup
ENST00000700026.1:n.295_296dup
ENST00000700029.1:c.492_493dup
ENST00000706954.1:c.658_659dup	ENSP00000516674.1:p.Lys221Ter
ENST00000706955.1:c.*693_*694dup	ENSP00000516675.1:n.*693_*694dup
ENST00000686459.1:c.*244_*245dup	ENSP00000508909.1:n.*244_*245dup
ENST00000688158.1:c.*769_*770dup	ENSP00000509254.1:n.*769_*770dup
ENST00000688308.1:c.658_659dup	ENSP00000508752.1:p.Lys221Ter
ENST00000688922.1:c.579_580dup
ENST00000693560.1:c.1177_1178dup	ENSP00000509861.1:p.Lys394Ter
ENST00000371953.8:c.658_659dup MANE Select	ENSP00000361021.3:p.Lys221Ter
ENST00000371953.7:c.658_659dup	ENSP00000361021.3:p.Lys221Ter
ENST00000472832.2:c.85_86dup	ENSP00000483066.1:p.Lys30Ter
NM_000314.5:c.658_659dup	NP_000305.3:p.Lys221Ter
NM_000314.6:c.658_659dup	NP_000305.3:p.Lys221Ter
NM_001304717.2:c.1177_1178dup	NP_001291646.2:p.Lys394Ter
NM_001304718.1:c.67_68dup	NP_001291647.1:p.Lys24Ter
XM_006717926.2:c.613_614dup	XP_006717989.1:p.Lys206Ter
XM_011539981.1:c.658_659dup	XP_011538283.1:p.Lys221Ter
XM_011539982.1:c.562_563dup	XP_011538284.1:p.Lys189Ter
XR_945791.1:n.1228_1229dup
NM_000314.7:c.658_659dup	NP_000305.3:p.Lys221Ter
NM_001304717.5:c.1177_1178dup	NP_001291646.4:p.Lys394Ter
NM_001304718.2:c.67_68dup	NP_001291647.1:p.Lys24Ter
NM_000314.8:c.658_659dup MANE Select	NP_000305.3:p.Lys221Ter