Canonical Allele Identifier: CA658656125

Gene: PTEN

Linked Data

• ClinVar Variation Id: 468724
• ClinVar RCV Id: RCV000531694
• dbSNP Id: rs1554825611
• MyVariant Identifiers: chr10:g.89720840_89720841del (hg19) ; chr10:g.87961083_87961084del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961083_87961084del , CM000672.2:g.87961083_87961084del	GRCh38
NC_000010.10:g.89720840_89720841del , CM000672.1:g.89720840_89720841del	GRCh37
NC_000010.9:g.89710820_89710821del	NCBI36
NG_007466.2:g.102645_102646del , LRG_311:g.102645_102646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1084_1085del	ENSP00000514759.2:p.Asp362GlnfsTer11
ENST00000710265.1:c.991_992del	ENSP00000518161.1:p.Asp331GlnfsTer11
ENST00000472832.3:c.991_992del	ENSP00000483066.2:p.Asp331GlnfsTer11
ENST00000688158.2:n.1726_1727del
ENST00000688922.2:c.*821_*822del	ENSP00000508742.2:n.*821_*822del
ENST00000700021.1:c.946_947del	ENSP00000514757.1:p.Asp316GlnfsTer11
ENST00000700022.1:c.*330_*331del	ENSP00000514758.1:n.*330_*331del
ENST00000700023.1:n.2149_2150del
ENST00000700024.1:n.2383_2384del
ENST00000700025.1:n.1760_1761del
ENST00000700026.1:n.628_629del
ENST00000706954.1:c.991_992del	ENSP00000516674.1:p.Asp331GlnfsTer11
ENST00000706955.1:c.*1026_*1027del	ENSP00000516675.1:n.*1026_*1027del
ENST00000686459.1:c.*577_*578del	ENSP00000508909.1:n.*577_*578del
ENST00000688158.1:c.*1102_*1103del	ENSP00000509254.1:n.*1102_*1103del
ENST00000688308.1:c.991_992del	ENSP00000508752.1:p.Asp331GlnfsTer11
ENST00000688922.1:c.912_913del
ENST00000693560.1:c.1510_1511del	ENSP00000509861.1:p.Asp504GlnfsTer11
ENST00000371953.8:c.991_992del MANE Select	ENSP00000361021.3:p.Asp331GlnfsTer11
ENST00000371953.7:c.991_992del	ENSP00000361021.3:p.Asp331GlnfsTer11
ENST00000472832.2:c.418_419del	ENSP00000483066.1:p.Asp140GlnfsTer11
NM_000314.5:c.991_992del	NP_000305.3:p.Asp331GlnfsTer11
NM_000314.6:c.991_992del	NP_000305.3:p.Asp331GlnfsTer11
NM_001304717.2:c.1510_1511del	NP_001291646.2:p.Asp504GlnfsTer11
NM_001304718.1:c.400_401del	NP_001291647.1:p.Asp134GlnfsTer11
XM_006717926.2:c.946_947del	XP_006717989.1:p.Asp316GlnfsTer11
XM_011539981.1:c.991_992del	XP_011538283.1:p.Asp331GlnfsTer11
XM_011539982.1:c.895_896del	XP_011538284.1:p.Asp299GlnfsTer11
XR_945791.1:n.1561_1562del
NM_000314.7:c.991_992del	NP_000305.3:p.Asp331GlnfsTer11
NM_001304717.5:c.1510_1511del	NP_001291646.4:p.Asp504GlnfsTer11
NM_001304718.2:c.400_401del	NP_001291647.1:p.Asp134GlnfsTer11
NM_000314.8:c.991_992del MANE Select	NP_000305.3:p.Asp331GlnfsTer11