Canonical Allele Identifier: CA645554041

Gene: PTEN

Linked Data

• COSMIC: COSM5751786

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957963_87957964insATACCTG , CM000672.2:g.87957963_87957964insATACCTG	GRCh38
NC_000010.10:g.89717720_89717721insATACCTG , CM000672.1:g.89717720_89717721insATACCTG	GRCh37
NC_000010.9:g.89707700_89707701insATACCTG	NCBI36
NG_007466.2:g.99525_99526insATACCTG , LRG_311:g.99525_99526insATACCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.745_746insATACCTG	ENSP00000514759.2:p.Val249AspfsTer6
ENST00000710265.1:c.745_746insATACCTG	ENSP00000518161.1:p.Val249AspfsTer6
ENST00000472832.3:c.745_746insATACCTG	ENSP00000483066.2:p.Val249AspfsTer6
ENST00000688158.2:n.1480_1481insATACCTG
ENST00000688922.2:c.*575_*576insATACCTG	ENSP00000508742.2:n.*575_*576insATACCTG
ENST00000700021.1:c.700_701insATACCTG	ENSP00000514757.1:p.Val234AspfsTer6
ENST00000700022.1:c.*84_*85insATACCTG	ENSP00000514758.1:n.*84_*85insATACCTG
ENST00000700023.1:n.1903_1904insATACCTG
ENST00000700024.1:n.2137_2138insATACCTG
ENST00000700025.1:n.1514_1515insATACCTG
ENST00000700026.1:n.382_383insATACCTG
ENST00000700029.1:c.579_580insATACCTG
ENST00000706954.1:c.745_746insATACCTG	ENSP00000516674.1:p.Val249AspfsTer6
ENST00000706955.1:c.*780_*781insATACCTG	ENSP00000516675.1:n.*780_*781insATACCTG
ENST00000686459.1:c.*331_*332insATACCTG	ENSP00000508909.1:n.*331_*332insATACCTG
ENST00000688158.1:c.*856_*857insATACCTG	ENSP00000509254.1:n.*856_*857insATACCTG
ENST00000688308.1:c.745_746insATACCTG	ENSP00000508752.1:p.Val249AspfsTer6
ENST00000688922.1:c.666_667insATACCTG
ENST00000693560.1:c.1264_1265insATACCTG	ENSP00000509861.1:p.Val422AspfsTer6
ENST00000371953.8:c.745_746insATACCTG MANE Select	ENSP00000361021.3:p.Val249AspfsTer6
ENST00000371953.7:c.745_746insATACCTG	ENSP00000361021.3:p.Val249AspfsTer6
ENST00000472832.2:c.172_173insATACCTG	ENSP00000483066.1:p.Val58AspfsTer6
NM_000314.5:c.745_746insATACCTG	NP_000305.3:p.Val249AspfsTer6
NM_000314.6:c.745_746insATACCTG	NP_000305.3:p.Val249AspfsTer6
NM_001304717.2:c.1264_1265insATACCTG	NP_001291646.2:p.Val422AspfsTer6
NM_001304718.1:c.154_155insATACCTG	NP_001291647.1:p.Val52AspfsTer6
XM_006717926.2:c.700_701insATACCTG	XP_006717989.1:p.Val234AspfsTer6
XM_011539981.1:c.745_746insATACCTG	XP_011538283.1:p.Val249AspfsTer6
XM_011539982.1:c.649_650insATACCTG	XP_011538284.1:p.Val217AspfsTer6
XR_945791.1:n.1315_1316insATACCTG
NM_000314.7:c.745_746insATACCTG	NP_000305.3:p.Val249AspfsTer6
NM_001304717.5:c.1264_1265insATACCTG	NP_001291646.4:p.Val422AspfsTer6
NM_001304718.2:c.154_155insATACCTG	NP_001291647.1:p.Val52AspfsTer6
NM_000314.8:c.745_746insATACCTG MANE Select	NP_000305.3:p.Val249AspfsTer6