Canonical Allele Identifier: CA915947562

Gene: PTEN

Linked Data

• ClinVar Variation Id: 756982
• ClinVar RCV Id: RCV001437704
• dbSNP Id: rs1589617079

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894002_87894030del , CM000672.2:g.87894002_87894030del	GRCh38
NC_000010.10:g.89653759_89653787del , CM000672.1:g.89653759_89653787del	GRCh37
NC_000010.9:g.89643739_89643767del	NCBI36
NG_007466.2:g.35564_35592del , LRG_311:g.35564_35592del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.80-23_85del
ENST00000710265.1:c.80-23_85del
ENST00000472832.3:c.80-23_85del
ENST00000688158.2:n.899+13564_899+13592del
ENST00000688922.2:c.80-23_85del
ENST00000700021.1:c.80-23_85del
ENST00000700022.1:c.80-23_85del
ENST00000706954.1:c.80-23_85del
ENST00000706955.1:c.*115-23_*120del
ENST00000686459.1:c.80-23_85del
ENST00000688158.1:c.*275+13564_*275+13592del	ENSP00000509254.1:n.*275+13564_*275+13592...
ENST00000688308.1:c.80-23_85del
ENST00000693560.1:c.599-23_604del
ENST00000371953.8:c.80-23_85del
ENST00000371953.7:c.80-23_85del
ENST00000462694.1:n.82-23_87del
ENST00000610634.1:c.-23-23_-18del
NM_000314.5:c.80-23_85del
NM_000314.6:c.80-23_85del
NM_001304717.2:c.599-23_604del
NM_001304718.1:c.-626-23_-621del
XM_006717926.2:c.80-23_85del
XM_011539981.1:c.80-23_85del
XM_011539982.1:c.68+13564_68+13592del	XP_011538284.1:n.68+13564_68+13592del
XR_945789.1:n.792-23_797del
XR_945790.1:n.792-23_797del
XR_945791.1:n.792-23_797del
NM_000314.7:c.80-23_85del
NM_001304717.5:c.599-23_604del
NM_001304718.2:c.-626-23_-621del
NM_000314.8:c.80-23_85del