Canonical Allele Identifier: CA930911056

Gene: PTEN

Linked Data

• gnomAD v3: 10-87966988-T-TCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC
• gnomAD v4: 10-87966988-T-TCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87966988_87966989insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC , CM000672.2:g.87966988_87966989insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	GRCh38
NC_000010.10:g.89726745_89726746insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC , CM000672.1:g.89726745_89726746insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	GRCh37
NC_000010.9:g.89716725_89716726insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	NCBI36
NG_007466.2:g.108550_108551insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC , LRG_311:g.108550_108551insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000710265.1:c.*1757_*1758insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	ENSP00000518161.1:n.*1757_*1758insCAATTTC...
ENST00000688158.2:n.3463_3464insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC
ENST00000706954.1:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	ENSP00000516674.1:n.*1516_*1517insCAATTTC...
ENST00000706955.1:c.*2763_*2764insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	ENSP00000516675.1:n.*2763_*2764insCAATTTC...
ENST00000688158.1:c.*2839_*2840insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	ENSP00000509254.1:n.*2839_*2840insCAATTTC...
ENST00000693560.1:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	ENSP00000509861.1:n.*1516_*1517insCAATTTC...
ENST00000371953.8:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC MANE Select	ENSP00000361021.3:n.*1516_*1517insCAATTTC...
ENST00000371953.7:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	ENSP00000361021.3:n.*1516_*1517insCAATTTC...
NM_000314.5:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	NP_000305.3:n.*1516_*1517insCAATTTCACTTAT...
NM_000314.6:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	NP_000305.3:n.*1516_*1517insCAATTTCACTTAT...
NM_001304717.2:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	NP_001291646.2:n.*1516_*1517insCAATTTCACT...
NM_001304718.1:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	NP_001291647.1:n.*1516_*1517insCAATTTCACT...
XM_006717926.2:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	XP_006717989.1:n.*1516_*1517insCAATTTCACT...
XM_011539982.1:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	XP_011538284.1:n.*1516_*1517insCAATTTCACT...
XR_945791.1:n.3298_3299insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC
NM_000314.7:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	NP_000305.3:n.*1516_*1517insCAATTTCACTTAT...
NM_001304717.5:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	NP_001291646.4:n.*1516_*1517insCAATTTCACT...
NM_001304718.2:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC	NP_001291647.1:n.*1516_*1517insCAATTTCACT...
NM_000314.8:c.*1516_*1517insCAATTTCACTTATATGATGATTTTTTTTTAAGAAGTGAAATTTTGGCCCGAGTTGGGACTAGGGCC MANE Select	NP_000305.3:n.*1516_*1517insCAATTTCACTTAT...