Canonical Allele Identifier: CA000592

Gene: PTEN

Linked Data

• ClinVar Variation Id: 92831
• ClinVar RCV Id: RCV000180134 ; RCV000198551 ; RCV001573417 ; RCV002255280 ; RCV002490677
• dbSNP Id: rs34003473
• ExAC: 10:89720633 C / CT
• gnomAD v2: 10-89720633-C-CT
• gnomAD v3: 10-87960876-C-CT
• gnomAD v4: 10-87960876-C-CT
• COSMIC: COSM5929 ; COSN23771956
• MyVariant Identifiers: chr10:g.89720648dupT (hg19) ; chr10:g.89720636_89720637insT (hg19) ; chr10:g.89720635_89720636insT (hg19) ; chr10:g.89720633_89720634insT (hg19) ; chr10:g.87960891dupT (hg38) ; chr10:g.87960878_87960879insT (hg38) ; chr10:g.87960876_87960877insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960891dup , CM000672.2:g.87960891dup	GRCh38
NC_000010.10:g.89720648dup , CM000672.1:g.89720648dup	GRCh37
NC_000010.9:g.89710628dup	NCBI36
NG_007466.2:g.102453dup , LRG_311:g.102453dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.895-3dup	ENSP00000514759.2:n.895-3dup
ENST00000710265.1:c.802-3dup	ENSP00000518161.1:n.802-3dup
ENST00000472832.3:c.802-3dup	ENSP00000483066.2:n.802-3dup
ENST00000688158.2:n.1537-3dup
ENST00000688922.2:c.*632-3dup	ENSP00000508742.2:n.*632-3dup
ENST00000700021.1:c.757-3dup	ENSP00000514757.1:n.757-3dup
ENST00000700022.1:c.*141-3dup	ENSP00000514758.1:n.*141-3dup
ENST00000700023.1:n.1960-3dup
ENST00000700024.1:n.2194-3dup
ENST00000700025.1:n.1571-3dup
ENST00000700026.1:n.439-3dup
ENST00000700029.1:c.729-3dup
ENST00000706954.1:c.802-3dup	ENSP00000516674.1:n.802-3dup
ENST00000706955.1:c.*837-3dup	ENSP00000516675.1:n.*837-3dup
ENST00000686459.1:c.*388-3dup	ENSP00000508909.1:n.*388-3dup
ENST00000688158.1:c.*913-3dup	ENSP00000509254.1:n.*913-3dup
ENST00000688308.1:c.802-3dup	ENSP00000508752.1:n.802-3dup
ENST00000688922.1:c.723-3dup
ENST00000693560.1:c.1321-3dup	ENSP00000509861.1:n.1321-3dup
ENST00000371953.8:c.802-3dup MANE Select	ENSP00000361021.3:n.802-3dup
ENST00000371953.7:c.802-3dup	ENSP00000361021.3:n.802-3dup
ENST00000472832.2:c.229-3dup	ENSP00000483066.1:n.229-3dup
NM_000314.5:c.802-3dup	NP_000305.3:n.802-3dup
NM_000314.6:c.802-3dup	NP_000305.3:n.802-3dup
NM_001304717.2:c.1321-3dup	NP_001291646.2:n.1321-3dup
NM_001304718.1:c.211-3dup	NP_001291647.1:n.211-3dup
XM_006717926.2:c.757-3dup	XP_006717989.1:n.757-3dup
XM_011539981.1:c.802-3dup	XP_011538283.1:n.802-3dup
XM_011539982.1:c.706-3dup	XP_011538284.1:n.706-3dup
XR_945791.1:n.1372-3dup
NM_000314.7:c.802-3dup	NP_000305.3:n.802-3dup
NM_001304717.5:c.1321-3dup	NP_001291646.4:n.1321-3dup
NM_001304718.2:c.211-3dup	NP_001291647.1:n.211-3dup
NM_000314.8:c.802-3dup MANE Select	NP_000305.3:n.802-3dup