Canonical Allele Identifier: CA2580082188
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2154670
ClinVar RCV Id: RCV003069399
dbSNP Id: rs2132281636

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960886_87960887insC , CM000672.2:g.87960886_87960887insC GRCh38
NC_000010.10:g.89720643_89720644insC , CM000672.1:g.89720643_89720644insC GRCh37
NC_000010.9:g.89710623_89710624insC NCBI36
NG_007466.2:g.102448_102449insC , LRG_311:g.102448_102449insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.895-8_895-7insC ENSP00000514759.2:n.895-8_895-7insC
ENST00000710265.1:c.802-8_802-7insC ENSP00000518161.1:n.802-8_802-7insC
ENST00000472832.3:c.802-8_802-7insC ENSP00000483066.2:n.802-8_802-7insC
ENST00000688158.2:n.1537-8_1537-7insC
ENST00000688922.2:c.*632-8_*632-7insC ENSP00000508742.2:n.*632-8_*632-7insC
ENST00000700021.1:c.757-8_757-7insC ENSP00000514757.1:n.757-8_757-7insC
ENST00000700022.1:c.*141-8_*141-7insC ENSP00000514758.1:n.*141-8_*141-7insC
ENST00000700023.1:n.1960-8_1960-7insC
ENST00000700024.1:n.2194-8_2194-7insC
ENST00000700025.1:n.1571-8_1571-7insC
ENST00000700026.1:n.439-8_439-7insC
ENST00000700029.1:c.729-8_729-7insC
ENST00000706954.1:c.802-8_802-7insC ENSP00000516674.1:n.802-8_802-7insC
ENST00000706955.1:c.*837-8_*837-7insC ENSP00000516675.1:n.*837-8_*837-7insC
ENST00000686459.1:c.*388-8_*388-7insC ENSP00000508909.1:n.*388-8_*388-7insC
ENST00000688158.1:c.*913-8_*913-7insC ENSP00000509254.1:n.*913-8_*913-7insC
ENST00000688308.1:c.802-8_802-7insC ENSP00000508752.1:n.802-8_802-7insC
ENST00000688922.1:c.723-8_723-7insC
ENST00000693560.1:c.1321-8_1321-7insC ENSP00000509861.1:n.1321-8_1321-7insC
ENST00000371953.8:c.802-8_802-7insC MANE Select ENSP00000361021.3:n.802-8_802-7insC
ENST00000371953.7:c.802-8_802-7insC ENSP00000361021.3:n.802-8_802-7insC
ENST00000472832.2:c.229-8_229-7insC ENSP00000483066.1:n.229-8_229-7insC
NM_000314.5:c.802-8_802-7insC NP_000305.3:n.802-8_802-7insC
NM_000314.6:c.802-8_802-7insC NP_000305.3:n.802-8_802-7insC
NM_001304717.2:c.1321-8_1321-7insC NP_001291646.2:n.1321-8_1321-7insC
NM_001304718.1:c.211-8_211-7insC NP_001291647.1:n.211-8_211-7insC
XM_006717926.2:c.757-8_757-7insC XP_006717989.1:n.757-8_757-7insC
XM_011539981.1:c.802-8_802-7insC XP_011538283.1:n.802-8_802-7insC
XM_011539982.1:c.706-8_706-7insC XP_011538284.1:n.706-8_706-7insC
XR_945791.1:n.1372-8_1372-7insC
NM_000314.7:c.802-8_802-7insC NP_000305.3:n.802-8_802-7insC
NM_001304717.5:c.1321-8_1321-7insC NP_001291646.4:n.1321-8_1321-7insC
NM_001304718.2:c.211-8_211-7insC NP_001291647.1:n.211-8_211-7insC
NM_000314.8:c.802-8_802-7insC MANE Select NP_000305.3:n.802-8_802-7insC