Canonical Allele Identifier: CA2582342699

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2627237
• ClinVar RCV Id: RCV003388431

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87925518_87925533del , CM000672.2:g.87925518_87925533del	GRCh38
NC_000010.10:g.89685275_89685290del , CM000672.1:g.89685275_89685290del	GRCh37
NC_000010.9:g.89675255_89675270del	NCBI36
NG_007466.2:g.67080_67095del , LRG_311:g.67080_67095del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.170_185del	ENSP00000514759.2:p.Leu57Ter
ENST00000710265.1:c.170_185del	ENSP00000518161.1:p.Leu57Ter
ENST00000472832.3:c.170_185del	ENSP00000483066.2:p.Leu57Ter
ENST00000688158.2:n.905_920del
ENST00000688922.2:c.170_185del	ENSP00000508742.2:p.Leu57Ter
ENST00000700021.1:c.165-5528_165-5513del	ENSP00000514757.1:n.165-5528_165-5513del
ENST00000700022.1:c.170_185del	ENSP00000514758.1:p.Leu57Ter
ENST00000700029.1:c.4_19del
ENST00000706954.1:c.170_185del	ENSP00000516674.1:p.Leu57Ter
ENST00000706955.1:c.*205_*220del	ENSP00000516675.1:n.*205_*220del
ENST00000686459.1:c.170_185del	ENSP00000508909.1:p.Leu57Ter
ENST00000688158.1:c.*281_*296del	ENSP00000509254.1:n.*281_*296del
ENST00000688308.1:c.170_185del	ENSP00000508752.1:p.Leu57Ter
ENST00000688922.1:c.39_54del
ENST00000693560.1:c.689_704del	ENSP00000509861.1:p.Leu230Ter
ENST00000371953.8:c.170_185del MANE Select	ENSP00000361021.3:p.Leu57Ter
ENST00000371953.7:c.170_185del	ENSP00000361021.3:p.Leu57Ter
ENST00000610634.1:c.68_83del	ENSP00000477517.1:p.Leu23Ter
NM_000314.5:c.170_185del	NP_000305.3:p.Leu57Ter
NM_000314.6:c.170_185del	NP_000305.3:p.Leu57Ter
NM_001304717.2:c.689_704del	NP_001291646.2:p.Leu230Ter
NM_001304718.1:c.-541-5528_-541-5513del	NP_001291647.1:n.-541-5528_-541-5513del
XM_006717926.2:c.165-5528_165-5513del	XP_006717989.1:n.165-5528_165-5513del
XM_011539981.1:c.170_185del	XP_011538283.1:p.Leu57Ter
XM_011539982.1:c.74_89del	XP_011538284.1:p.Leu25Ter
XR_945789.1:n.882_897del
XR_945790.1:n.882_897del
XR_945791.1:n.882_897del
NM_000314.7:c.170_185del	NP_000305.3:p.Leu57Ter
NM_001304717.5:c.689_704del	NP_001291646.4:p.Leu230Ter
NM_001304718.2:c.-541-5528_-541-5513del	NP_001291647.1:n.-541-5528_-541-5513del
NM_000314.8:c.170_185del MANE Select	NP_000305.3:p.Leu57Ter