Canonical Allele Identifier: CA658657994

Gene: PTEN

Linked Data

• ClinVar Variation Id: 450810
• ClinVar RCV Id: RCV002358413 ; RCV003139737
• dbSNP Id: rs587776671
• MyVariant Identifiers: chr10:g.89624265_89624266del (hg19) ; chr10:g.87864508_87864509del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87864508_87864509del , CM000672.2:g.87864508_87864509del	GRCh38
NC_000010.10:g.89624265_89624266del , CM000672.1:g.89624265_89624266del	GRCh37
NC_000010.9:g.89614245_89614246del	NCBI36
NG_007466.2:g.6070_6071del , LRG_311:g.6070_6071del
NG_033079.1:g.3931_3932del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.39_40del	ENSP00000514759.2:p.Arg14GlufsTer29
ENST00000710265.1:c.39_40del	ENSP00000518161.1:p.Arg14GlufsTer29
ENST00000472832.3:c.39_40del	ENSP00000483066.2:p.Arg14GlufsTer29
ENST00000688922.2:c.39_40del	ENSP00000508742.2:p.Arg14GlufsTer29
ENST00000700021.1:c.39_40del	ENSP00000514757.1:p.Arg14GlufsTer29
ENST00000700022.1:c.39_40del	ENSP00000514758.1:p.Arg14GlufsTer29
ENST00000706954.1:c.39_40del	ENSP00000516674.1:p.Arg14GlufsTer29
ENST00000706955.1:c.39_40del	ENSP00000516675.1:p.Arg14GlufsTer16
ENST00000686459.1:c.39_40del	ENSP00000508909.1:p.Arg14GlufsTer29
ENST00000688158.1:c.39_40del	ENSP00000509254.1:p.Arg14GlufsTer21
ENST00000688308.1:c.39_40del	ENSP00000508752.1:p.Arg14GlufsTer29
ENST00000693560.1:c.558_559del	ENSP00000509861.1:p.Arg187GlufsTer29
ENST00000371953.8:c.39_40del MANE Select	ENSP00000361021.3:p.Arg14GlufsTer29
ENST00000371953.7:c.39_40del	ENSP00000361021.3:p.Arg14GlufsTer29
ENST00000462694.1:n.41_42del
ENST00000487939.1:n.60_61del
ENST00000610634.1:c.-64_-63del	ENSP00000477517.1:n.-64_-63del
ENST00000618586.1:n.8_9del
NM_000314.5:c.39_40del	NP_000305.3:p.Arg14GlufsTer29
NM_000314.6:c.39_40del	NP_000305.3:p.Arg14GlufsTer29
NM_001304717.2:c.558_559del	NP_001291646.2:p.Arg187GlufsTer29
NM_001304718.1:c.-667_-666del	NP_001291647.1:n.-667_-666del
XM_006717926.2:c.39_40del	XP_006717989.1:p.Arg14GlufsTer29
XM_011539981.1:c.39_40del	XP_011538283.1:p.Arg14GlufsTer29
XR_945789.1:n.751_752del
XR_945790.1:n.751_752del
XR_945791.1:n.751_752del
NM_000314.7:c.39_40del	NP_000305.3:p.Arg14GlufsTer29
NM_001304717.5:c.558_559del	NP_001291646.4:p.Arg187GlufsTer29
NM_001304718.2:c.-667_-666del	NP_001291647.1:n.-667_-666del
NM_000314.8:c.39_40del MANE Select	NP_000305.3:p.Arg14GlufsTer29