Canonical Allele Identifier: CA1926190052

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1011929
• ClinVar RCV Id: RCV001309801
• dbSNP Id: rs1860627006

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961023_87961025del , CM000672.2:g.87961023_87961025del	GRCh38
NC_000010.10:g.89720780_89720782del , CM000672.1:g.89720780_89720782del	GRCh37
NC_000010.9:g.89710760_89710762del	NCBI36
NG_007466.2:g.102585_102587del , LRG_311:g.102585_102587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1024_1026del	ENSP00000514759.2:p.Asn342del
ENST00000710265.1:c.931_933del	ENSP00000518161.1:p.Asn311del
ENST00000472832.3:c.931_933del	ENSP00000483066.2:p.Asn311del
ENST00000688158.2:n.1666_1668del
ENST00000688922.2:c.*761_*763del	ENSP00000508742.2:n.*761_*763del
ENST00000700021.1:c.886_888del	ENSP00000514757.1:p.Asn296del
ENST00000700022.1:c.*270_*272del	ENSP00000514758.1:n.*270_*272del
ENST00000700023.1:n.2089_2091del
ENST00000700024.1:n.2323_2325del
ENST00000700025.1:n.1700_1702del
ENST00000700026.1:n.568_570del
ENST00000706954.1:c.931_933del	ENSP00000516674.1:p.Asn311del
ENST00000706955.1:c.*966_*968del	ENSP00000516675.1:n.*966_*968del
ENST00000686459.1:c.*517_*519del	ENSP00000508909.1:n.*517_*519del
ENST00000688158.1:c.*1042_*1044del	ENSP00000509254.1:n.*1042_*1044del
ENST00000688308.1:c.931_933del	ENSP00000508752.1:p.Asn311del
ENST00000688922.1:c.852_854del
ENST00000693560.1:c.1450_1452del	ENSP00000509861.1:p.Asn484del
ENST00000371953.8:c.931_933del MANE Select	ENSP00000361021.3:p.Asn311del
ENST00000371953.7:c.931_933del	ENSP00000361021.3:p.Asn311del
ENST00000472832.2:c.358_360del	ENSP00000483066.1:p.Asn120del
NM_000314.5:c.931_933del	NP_000305.3:p.Asn311del
NM_000314.6:c.931_933del	NP_000305.3:p.Asn311del
NM_001304717.2:c.1450_1452del	NP_001291646.2:p.Asn484del
NM_001304718.1:c.340_342del	NP_001291647.1:p.Asn114del
XM_006717926.2:c.886_888del	XP_006717989.1:p.Asn296del
XM_011539981.1:c.931_933del	XP_011538283.1:p.Asn311del
XM_011539982.1:c.835_837del	XP_011538284.1:p.Asn279del
XR_945791.1:n.1501_1503del
NM_000314.7:c.931_933del	NP_000305.3:p.Asn311del
NM_001304717.5:c.1450_1452del	NP_001291646.4:p.Asn484del
NM_001304718.2:c.340_342del	NP_001291647.1:p.Asn114del
NM_000314.8:c.931_933del MANE Select	NP_000305.3:p.Asn311del