Canonical Allele Identifier: CA2697558631

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2736135
• ClinVar RCV Id: RCV003509005

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961079_87961093dup , CM000672.2:g.87961079_87961093dup	GRCh38
NC_000010.10:g.89720836_89720850dup , CM000672.1:g.89720836_89720850dup	GRCh37
NC_000010.9:g.89710816_89710830dup	NCBI36
NG_007466.2:g.102641_102655dup , LRG_311:g.102641_102655dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1080_1094dup	ENSP00000514759.2:p.Asn365_Arg366insLysAspLysAlaAsn
ENST00000710265.1:c.987_1001dup	ENSP00000518161.1:p.Asn334_Arg335insLysAspLysAlaAsn
ENST00000472832.3:c.987_1001dup	ENSP00000483066.2:p.Asn334_Arg335insLysAspLysAlaAsn
ENST00000688158.2:n.1722_1736dup
ENST00000688922.2:c.*817_*831dup	ENSP00000508742.2:n.*817_*831dup
ENST00000700021.1:c.942_956dup	ENSP00000514757.1:p.Asn319_Arg320insLysAspLysAlaAsn
ENST00000700022.1:c.*326_*340dup	ENSP00000514758.1:n.*326_*340dup
ENST00000700023.1:n.2145_2159dup
ENST00000700024.1:n.2379_2393dup
ENST00000700025.1:n.1756_1770dup
ENST00000700026.1:n.624_638dup
ENST00000706954.1:c.987_1001dup	ENSP00000516674.1:p.Asn334_Arg335insLysAspLysAlaAsn
ENST00000706955.1:c.*1022_*1036dup	ENSP00000516675.1:n.*1022_*1036dup
ENST00000686459.1:c.*573_*587dup	ENSP00000508909.1:n.*573_*587dup
ENST00000688158.1:c.*1098_*1112dup	ENSP00000509254.1:n.*1098_*1112dup
ENST00000688308.1:c.987_1001dup	ENSP00000508752.1:p.Asn334_Arg335insLysAspLysAlaAsn
ENST00000688922.1:c.908_922dup
ENST00000693560.1:c.1506_1520dup	ENSP00000509861.1:p.Asn507_Arg508insLysAspLysAlaAsn
ENST00000371953.8:c.987_1001dup MANE Select	ENSP00000361021.3:p.Asn334_Arg335insLysAspLysAlaAsn
ENST00000371953.7:c.987_1001dup	ENSP00000361021.3:p.Asn334_Arg335insLysAspLysAlaAsn
ENST00000472832.2:c.414_428dup	ENSP00000483066.1:p.Asn143_Arg144insLysAspLysAlaAsn
NM_000314.5:c.987_1001dup	NP_000305.3:p.Asn334_Arg335insLysAspLysAlaAsn
NM_000314.6:c.987_1001dup	NP_000305.3:p.Asn334_Arg335insLysAspLysAlaAsn
NM_001304717.2:c.1506_1520dup	NP_001291646.2:p.Asn507_Arg508insLysAspLysAlaAsn
NM_001304718.1:c.396_410dup	NP_001291647.1:p.Asn137_Arg138insLysAspLysAlaAsn
XM_006717926.2:c.942_956dup	XP_006717989.1:p.Asn319_Arg320insLysAspLysAlaAsn
XM_011539981.1:c.987_1001dup	XP_011538283.1:p.Asn334_Arg335insLysAspLysAlaAsn
XM_011539982.1:c.891_905dup	XP_011538284.1:p.Asn302_Arg303insLysAspLysAlaAsn
XR_945791.1:n.1557_1571dup
NM_000314.7:c.987_1001dup	NP_000305.3:p.Asn334_Arg335insLysAspLysAlaAsn
NM_001304717.5:c.1506_1520dup	NP_001291646.4:p.Asn507_Arg508insLysAspLysAlaAsn
NM_001304718.2:c.396_410dup	NP_001291647.1:p.Asn137_Arg138insLysAspLysAlaAsn
NM_000314.8:c.987_1001dup MANE Select	NP_000305.3:p.Asn334_Arg335insLysAspLysAlaAsn