Canonical Allele Identifier: CA2573053370

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1334097
• ClinVar RCV Id: RCV001809312
• dbSNP Id: rs2132283188

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961058_87961088del , CM000672.2:g.87961058_87961088del	GRCh38
NC_000010.10:g.89720815_89720845del , CM000672.1:g.89720815_89720845del	GRCh37
NC_000010.9:g.89710795_89710825del	NCBI36
NG_007466.2:g.102620_102650del , LRG_311:g.102620_102650del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1059_1089del	ENSP00000514759.2:p.Asn354ProfsTer11
ENST00000710265.1:c.966_996del	ENSP00000518161.1:p.Asn323ProfsTer14
ENST00000472832.3:c.966_996del	ENSP00000483066.2:p.Asn323ProfsTer?
ENST00000688158.2:n.1701_1731del
ENST00000688922.2:c.*796_*826del	ENSP00000508742.2:n.*796_*826del
ENST00000700021.1:c.921_951del	ENSP00000514757.1:p.Asn308ProfsTer11
ENST00000700022.1:c.*305_*335del	ENSP00000514758.1:n.*305_*335del
ENST00000700023.1:n.2124_2154del
ENST00000700024.1:n.2358_2388del
ENST00000700025.1:n.1735_1765del
ENST00000700026.1:n.603_633del
ENST00000706954.1:c.966_996del	ENSP00000516674.1:p.Asn323ProfsTer11
ENST00000706955.1:c.*1001_*1031del	ENSP00000516675.1:n.*1001_*1031del
ENST00000686459.1:c.*552_*582del	ENSP00000508909.1:n.*552_*582del
ENST00000688158.1:c.*1077_*1107del	ENSP00000509254.1:n.*1077_*1107del
ENST00000688308.1:c.966_996del	ENSP00000508752.1:p.Asn323ProfsTer11
ENST00000688922.1:c.887_917del
ENST00000693560.1:c.1485_1515del	ENSP00000509861.1:p.Asn496ProfsTer11
ENST00000371953.8:c.966_996del MANE Select	ENSP00000361021.3:p.Asn323ProfsTer11
ENST00000371953.7:c.966_996del	ENSP00000361021.3:p.Asn323ProfsTer11
ENST00000472832.2:c.393_423del	ENSP00000483066.1:p.Asn132ProfsTer?
NM_000314.5:c.966_996del	NP_000305.3:p.Asn323ProfsTer11
NM_000314.6:c.966_996del	NP_000305.3:p.Asn323ProfsTer11
NM_001304717.2:c.1485_1515del	NP_001291646.2:p.Asn496ProfsTer11
NM_001304718.1:c.375_405del	NP_001291647.1:p.Asn126ProfsTer11
XM_006717926.2:c.921_951del	XP_006717989.1:p.Asn308ProfsTer11
XM_011539981.1:c.966_996del	XP_011538283.1:p.Asn323ProfsTer14
XM_011539982.1:c.870_900del	XP_011538284.1:p.Asn291ProfsTer11
XR_945791.1:n.1536_1566del
NM_000314.7:c.966_996del	NP_000305.3:p.Asn323ProfsTer11
NM_001304717.5:c.1485_1515del	NP_001291646.4:p.Asn496ProfsTer11
NM_001304718.2:c.375_405del	NP_001291647.1:p.Asn126ProfsTer11
NM_000314.8:c.966_996del MANE Select	NP_000305.3:p.Asn323ProfsTer11