Canonical Allele Identifier: CA2695200926

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2674313
• ClinVar RCV Id: RCV003452509

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952153_87952154dup , CM000672.2:g.87952153_87952154dup	GRCh38
NC_000010.10:g.89711910_89711911dup , CM000672.1:g.89711910_89711911dup	GRCh37
NC_000010.9:g.89701890_89701891dup	NCBI36
NG_007466.2:g.93715_93716dup , LRG_311:g.93715_93716dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.528_529dup	ENSP00000514759.2:p.Tyr177PhefsTer7
ENST00000710265.1:c.528_529dup	ENSP00000518161.1:p.Tyr177PhefsTer7
ENST00000472832.3:c.528_529dup	ENSP00000483066.2:p.Tyr177PhefsTer7
ENST00000688158.2:n.1263_1264dup
ENST00000688922.2:c.*358_*359dup	ENSP00000508742.2:n.*358_*359dup
ENST00000700021.1:c.483_484dup	ENSP00000514757.1:p.Tyr162PhefsTer7
ENST00000700022.1:c.493-5700_493-5699dup	ENSP00000514758.1:n.493-5700_493-5699dup
ENST00000700023.1:n.1686_1687dup
ENST00000700024.1:n.1920_1921dup
ENST00000700025.1:n.1297_1298dup
ENST00000700029.1:c.362_363dup
ENST00000706954.1:c.528_529dup	ENSP00000516674.1:p.Tyr177PhefsTer7
ENST00000706955.1:c.*563_*564dup	ENSP00000516675.1:n.*563_*564dup
ENST00000686459.1:c.*114_*115dup	ENSP00000508909.1:n.*114_*115dup
ENST00000688158.1:c.*639_*640dup	ENSP00000509254.1:n.*639_*640dup
ENST00000688308.1:c.528_529dup	ENSP00000508752.1:p.Tyr177PhefsTer7
ENST00000688922.1:c.449_450dup
ENST00000693560.1:c.1047_1048dup	ENSP00000509861.1:p.Tyr350PhefsTer7
ENST00000371953.8:c.528_529dup MANE Select	ENSP00000361021.3:p.Tyr177PhefsTer7
ENST00000371953.7:c.528_529dup	ENSP00000361021.3:p.Tyr177PhefsTer7
NM_000314.5:c.528_529dup	NP_000305.3:p.Tyr177PhefsTer7
NM_000314.6:c.528_529dup	NP_000305.3:p.Tyr177PhefsTer7
NM_001304717.2:c.1047_1048dup	NP_001291646.2:p.Tyr350PhefsTer7
NM_001304718.1:c.-64_-63dup	NP_001291647.1:n.-64_-63dup
XM_006717926.2:c.483_484dup	XP_006717989.1:p.Tyr162PhefsTer7
XM_011539981.1:c.528_529dup	XP_011538283.1:p.Tyr177PhefsTer7
XM_011539982.1:c.432_433dup	XP_011538284.1:p.Tyr145PhefsTer7
XR_945789.1:n.1399_1400dup
XR_945790.1:n.1516_1517dup
XR_945791.1:n.1205-5700_1205-5699dup
NM_000314.7:c.528_529dup	NP_000305.3:p.Tyr177PhefsTer7
NM_001304717.5:c.1047_1048dup	NP_001291646.4:p.Tyr350PhefsTer7
NM_001304718.2:c.-64_-63dup	NP_001291647.1:n.-64_-63dup
NM_000314.8:c.528_529dup MANE Select	NP_000305.3:p.Tyr177PhefsTer7