Canonical Allele Identifier: CA645553762

Gene: PTEN

Linked Data

• ClinVar Variation Id: 580641
• ClinVar RCV Id: RCV000704239
• dbSNP Id: rs1564826836
• COSMIC: COSM5975 ; COSM921073
• MyVariant Identifiers: chr10:g.89685315_89685316del (hg19) ; chr10:g.87925558_87925559del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87925558_87925559del , CM000672.2:g.87925558_87925559del	GRCh38
NC_000010.10:g.89685315_89685316del , CM000672.1:g.89685315_89685316del	GRCh37
NC_000010.9:g.89675295_89675296del	NCBI36
NG_007466.2:g.67120_67121del , LRG_311:g.67120_67121del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.209+1_209+2del
ENST00000710265.1:c.209+1_209+2del
ENST00000472832.3:c.209+1_209+2del
ENST00000688158.2:n.944+1_944+2del
ENST00000688922.2:c.209+1_209+2del
ENST00000700021.1:c.165-5488_165-5487del	ENSP00000514757.1:n.165-5488_165-5487del
ENST00000700022.1:c.209+1_209+2del
ENST00000700029.1:c.43+1_43+2del
ENST00000706954.1:c.209+1_209+2del
ENST00000706955.1:c.*244+1_*244+2del
ENST00000686459.1:c.209+1_209+2del
ENST00000688158.1:c.*320+1_*320+2del
ENST00000688308.1:c.209+1_209+2del
ENST00000688922.1:c.78+1_78+2del
ENST00000693560.1:c.728+1_728+2del
ENST00000371953.8:c.209+1_209+2del
ENST00000371953.7:c.209+1_209+2del
ENST00000498703.1:n.35+1_35+2del
ENST00000610634.1:c.107+1_107+2del
NM_000314.5:c.209+1_209+2del
NM_000314.6:c.209+1_209+2del
NM_001304717.2:c.728+1_728+2del
NM_001304718.1:c.-541-5488_-541-5487del	NP_001291647.1:n.-541-5488_-541-5487del
XM_006717926.2:c.165-5488_165-5487del	XP_006717989.1:n.165-5488_165-5487del
XM_011539981.1:c.209+1_209+2del
XM_011539982.1:c.113+1_113+2del
XR_945789.1:n.921+1_921+2del
XR_945790.1:n.921+1_921+2del
XR_945791.1:n.921+1_921+2del
NM_000314.7:c.209+1_209+2del
NM_001304717.5:c.728+1_728+2del
NM_001304718.2:c.-541-5488_-541-5487del	NP_001291647.1:n.-541-5488_-541-5487del
NM_000314.8:c.209+1_209+2del