Canonical Allele Identifier: CA915947357

Gene: PTEN

Linked Data

• ClinVar Variation Id: 816921
• ClinVar RCV Id: RCV001007934
• dbSNP Id: rs1589669105

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965292dup , CM000672.2:g.87965292dup	GRCh38
NC_000010.10:g.89725049dup , CM000672.1:g.89725049dup	GRCh37
NC_000010.9:g.89715029dup	NCBI36
NG_007466.2:g.106854dup , LRG_311:g.106854dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1125dup	ENSP00000514759.2:p.Leu376AlafsTer16
ENST00000710265.1:c.*61dup	ENSP00000518161.1:n.*61dup
ENST00000688158.2:n.1767dup
ENST00000688922.2:c.*862dup	ENSP00000508742.2:n.*862dup
ENST00000700021.1:c.987dup	ENSP00000514757.1:p.Leu330AlafsTer16
ENST00000700022.1:c.*371dup	ENSP00000514758.1:n.*371dup
ENST00000700023.1:n.2190dup
ENST00000700024.1:n.2424dup
ENST00000706954.1:c.1032dup	ENSP00000516674.1:p.Leu345AlafsTer16
ENST00000706955.1:c.*1067dup	ENSP00000516675.1:n.*1067dup
ENST00000686459.1:c.*618dup	ENSP00000508909.1:n.*618dup
ENST00000688158.1:c.*1143dup	ENSP00000509254.1:n.*1143dup
ENST00000688308.1:c.1032dup	ENSP00000508752.1:p.Leu345AlafsTer16
ENST00000688922.1:c.953dup
ENST00000693560.1:c.1551dup	ENSP00000509861.1:p.Leu518AlafsTer16
ENST00000371953.8:c.1032dup MANE Select	ENSP00000361021.3:p.Leu345AlafsTer16
ENST00000371953.7:c.1032dup	ENSP00000361021.3:p.Leu345AlafsTer16
NM_000314.5:c.1032dup	NP_000305.3:p.Leu345AlafsTer16
NM_000314.6:c.1032dup	NP_000305.3:p.Leu345AlafsTer16
NM_001304717.2:c.1551dup	NP_001291646.2:p.Leu518AlafsTer16
NM_001304718.1:c.441dup	NP_001291647.1:p.Leu148AlafsTer16
XM_006717926.2:c.987dup	XP_006717989.1:p.Leu330AlafsTer16
XM_011539982.1:c.936dup	XP_011538284.1:p.Leu313AlafsTer16
XR_945791.1:n.1602dup
NM_000314.7:c.1032dup	NP_000305.3:p.Leu345AlafsTer16
NM_001304717.5:c.1551dup	NP_001291646.4:p.Leu518AlafsTer16
NM_001304718.2:c.441dup	NP_001291647.1:p.Leu148AlafsTer16
NM_000314.8:c.1032dup MANE Select	NP_000305.3:p.Leu345AlafsTer16