Canonical Allele Identifier: CA2739275914

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2830390
• ClinVar RCV Id: RCV003620980

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894011_87894037dup , CM000672.2:g.87894011_87894037dup	GRCh38
NC_000010.10:g.89653768_89653794dup , CM000672.1:g.89653768_89653794dup	GRCh37
NC_000010.9:g.89643748_89643774dup	NCBI36
NG_007466.2:g.35573_35599dup , LRG_311:g.35573_35599dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.80-14_92dup
ENST00000710265.1:c.80-14_92dup
ENST00000472832.3:c.80-14_92dup
ENST00000688158.2:n.899+13573_899+13599dup
ENST00000688922.2:c.80-14_92dup
ENST00000700021.1:c.80-14_92dup
ENST00000700022.1:c.80-14_92dup
ENST00000706954.1:c.80-14_92dup
ENST00000706955.1:c.*115-14_*127dup
ENST00000686459.1:c.80-14_92dup
ENST00000688158.1:c.*275+13573_*275+13599dup	ENSP00000509254.1:n.*275+13573_*275+13599dup
ENST00000688308.1:c.80-14_92dup
ENST00000693560.1:c.599-14_611dup
ENST00000371953.8:c.80-14_92dup
ENST00000371953.7:c.80-14_92dup
ENST00000462694.1:n.82-14_94dup
ENST00000610634.1:c.-23-14_-11dup
NM_000314.5:c.80-14_92dup
NM_000314.6:c.80-14_92dup
NM_001304717.2:c.599-14_611dup
NM_001304718.1:c.-626-14_-614dup
XM_006717926.2:c.80-14_92dup
XM_011539981.1:c.80-14_92dup
XM_011539982.1:c.68+13573_68+13599dup	XP_011538284.1:n.68+13573_68+13599dup
XR_945789.1:n.792-14_804dup
XR_945790.1:n.792-14_804dup
XR_945791.1:n.792-14_804dup
NM_000314.7:c.80-14_92dup
NM_001304717.5:c.599-14_611dup
NM_001304718.2:c.-626-14_-614dup
NM_000314.8:c.80-14_92dup