Canonical Allele Identifier: CA16619070

Gene: PTEN

Linked Data

• ClinVar Variation Id: 423112
• ClinVar RCV Id: RCV000481283 ; RCV001050666
• dbSNP Id: rs1064796236
• MyVariant Identifiers: chr10:g.89725046_89725056del (hg19) ; chr10:g.87965289_87965299del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965289_87965299del , CM000672.2:g.87965289_87965299del	GRCh38
NC_000010.10:g.89725046_89725056del , CM000672.1:g.89725046_89725056del	GRCh37
NC_000010.9:g.89715026_89715036del	NCBI36
NG_007466.2:g.106851_106861del , LRG_311:g.106851_106861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1122_1132del	ENSP00000514759.2:p.Lys375HisfsTer13
ENST00000710265.1:c.*58_*68del	ENSP00000518161.1:n.*58_*68del
ENST00000688158.2:n.1764_1774del
ENST00000688922.2:c.*859_*869del	ENSP00000508742.2:n.*859_*869del
ENST00000700021.1:c.984_994del	ENSP00000514757.1:p.Lys329HisfsTer13
ENST00000700022.1:c.*368_*378del	ENSP00000514758.1:n.*368_*378del
ENST00000700023.1:n.2187_2197del
ENST00000700024.1:n.2421_2431del
ENST00000706954.1:c.1029_1039del	ENSP00000516674.1:p.Lys344HisfsTer13
ENST00000706955.1:c.*1064_*1074del	ENSP00000516675.1:n.*1064_*1074del
ENST00000686459.1:c.*615_*625del	ENSP00000508909.1:n.*615_*625del
ENST00000688158.1:c.*1140_*1150del	ENSP00000509254.1:n.*1140_*1150del
ENST00000688308.1:c.1029_1039del	ENSP00000508752.1:p.Lys344HisfsTer13
ENST00000688922.1:c.950_960del
ENST00000693560.1:c.1548_1558del	ENSP00000509861.1:p.Lys517HisfsTer13
ENST00000371953.8:c.1029_1039del MANE Select	ENSP00000361021.3:p.Lys344HisfsTer13
ENST00000371953.7:c.1029_1039del	ENSP00000361021.3:p.Lys344HisfsTer13
NM_000314.5:c.1029_1039del	NP_000305.3:p.Lys344HisfsTer13
NM_000314.6:c.1029_1039del	NP_000305.3:p.Lys344HisfsTer13
NM_001304717.2:c.1548_1558del	NP_001291646.2:p.Lys517HisfsTer13
NM_001304718.1:c.438_448del	NP_001291647.1:p.Lys147HisfsTer13
XM_006717926.2:c.984_994del	XP_006717989.1:p.Lys329HisfsTer13
XM_011539982.1:c.933_943del	XP_011538284.1:p.Lys312HisfsTer13
XR_945791.1:n.1599_1609del
NM_000314.7:c.1029_1039del	NP_000305.3:p.Lys344HisfsTer13
NM_001304717.5:c.1548_1558del	NP_001291646.4:p.Lys517HisfsTer13
NM_001304718.2:c.438_448del	NP_001291647.1:p.Lys147HisfsTer13
NM_000314.8:c.1029_1039del MANE Select	NP_000305.3:p.Lys344HisfsTer13