Canonical Allele Identifier: CA2555308293

Gene: PTEN

Linked Data

• ClinVar Variation Id: 3072500
• ClinVar RCV Id: RCV004013522

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965473_87965474del , CM000672.2:g.87965473_87965474del	GRCh38
NC_000010.10:g.89725230_89725231del , CM000672.1:g.89725230_89725231del	GRCh37
NC_000010.9:g.89715210_89715211del	NCBI36
NG_007466.2:g.107035_107036del , LRG_311:g.107035_107036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.*1_*2del	ENSP00000514759.2:n.*1_*2del
ENST00000710265.1:c.*242_*243del	ENSP00000518161.1:n.*242_*243del
ENST00000688158.2:n.1948_1949del
ENST00000688922.2:c.*1043_*1044del	ENSP00000508742.2:n.*1043_*1044del
ENST00000700021.1:c.*1_*2del	ENSP00000514757.1:n.*1_*2del
ENST00000700022.1:c.*552_*553del	ENSP00000514758.1:n.*552_*553del
ENST00000700023.1:n.2371_2372del
ENST00000700024.1:n.2605_2606del
ENST00000706954.1:c.*1_*2del	ENSP00000516674.1:n.*1_*2del
ENST00000706955.1:c.*1248_*1249del	ENSP00000516675.1:n.*1248_*1249del
ENST00000686459.1:c.*799_*800del	ENSP00000508909.1:n.*799_*800del
ENST00000688158.1:c.*1324_*1325del	ENSP00000509254.1:n.*1324_*1325del
ENST00000688308.1:c.*1_*2del	ENSP00000508752.1:n.*1_*2del
ENST00000688922.1:c.1134_1135del
ENST00000693560.1:c.*1_*2del	ENSP00000509861.1:n.*1_*2del
ENST00000371953.8:c.*1_*2del MANE Select	ENSP00000361021.3:n.*1_*2del
ENST00000371953.7:c.*1_*2del	ENSP00000361021.3:n.*1_*2del
NM_000314.5:c.*1_*2del	NP_000305.3:n.*1_*2del
NM_000314.6:c.*1_*2del	NP_000305.3:n.*1_*2del
NM_001304717.2:c.*1_*2del	NP_001291646.2:n.*1_*2del
NM_001304718.1:c.*1_*2del	NP_001291647.1:n.*1_*2del
XM_006717926.2:c.*1_*2del	XP_006717989.1:n.*1_*2del
XM_011539982.1:c.*1_*2del	XP_011538284.1:n.*1_*2del
XR_945791.1:n.1783_1784del
NM_000314.7:c.*1_*2del	NP_000305.3:n.*1_*2del
NM_001304717.5:c.*1_*2del	NP_001291646.4:n.*1_*2del
NM_001304718.2:c.*1_*2del	NP_001291647.1:n.*1_*2del
NM_000314.8:c.*1_*2del MANE Select	NP_000305.3:n.*1_*2del