Canonical Allele Identifier: CA916081602

Gene: PTEN

Linked Data

• ClinVar Variation Id: 853366
• ClinVar RCV Id: RCV001058157
• dbSNP Id: rs1860732201

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965292_87965293insAC , CM000672.2:g.87965292_87965293insAC	GRCh38
NC_000010.10:g.89725049_89725050insAC , CM000672.1:g.89725049_89725050insAC	GRCh37
NC_000010.9:g.89715029_89715030insAC	NCBI36
NG_007466.2:g.106854_106855insAC , LRG_311:g.106854_106855insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1125_1126insAC	ENSP00000514759.2:p.Leu376ThrfsTer8
ENST00000710265.1:c.*61_*62insAC	ENSP00000518161.1:n.*61_*62insAC
ENST00000688158.2:n.1767_1768insAC
ENST00000688922.2:c.*862_*863insAC	ENSP00000508742.2:n.*862_*863insAC
ENST00000700021.1:c.987_988insAC	ENSP00000514757.1:p.Leu330ThrfsTer8
ENST00000700022.1:c.*371_*372insAC	ENSP00000514758.1:n.*371_*372insAC
ENST00000700023.1:n.2190_2191insAC
ENST00000700024.1:n.2424_2425insAC
ENST00000706954.1:c.1032_1033insAC	ENSP00000516674.1:p.Leu345ThrfsTer8
ENST00000706955.1:c.*1067_*1068insAC	ENSP00000516675.1:n.*1067_*1068insAC
ENST00000686459.1:c.*618_*619insAC	ENSP00000508909.1:n.*618_*619insAC
ENST00000688158.1:c.*1143_*1144insAC	ENSP00000509254.1:n.*1143_*1144insAC
ENST00000688308.1:c.1032_1033insAC	ENSP00000508752.1:p.Leu345ThrfsTer8
ENST00000688922.1:c.953_954insAC
ENST00000693560.1:c.1551_1552insAC	ENSP00000509861.1:p.Leu518ThrfsTer8
ENST00000371953.8:c.1032_1033insAC MANE Select	ENSP00000361021.3:p.Leu345ThrfsTer8
ENST00000371953.7:c.1032_1033insAC	ENSP00000361021.3:p.Leu345ThrfsTer8
NM_000314.5:c.1032_1033insAC	NP_000305.3:p.Leu345ThrfsTer8
NM_000314.6:c.1032_1033insAC	NP_000305.3:p.Leu345ThrfsTer8
NM_001304717.2:c.1551_1552insAC	NP_001291646.2:p.Leu518ThrfsTer8
NM_001304718.1:c.441_442insAC	NP_001291647.1:p.Leu148ThrfsTer8
XM_006717926.2:c.987_988insAC	XP_006717989.1:p.Leu330ThrfsTer8
XM_011539982.1:c.936_937insAC	XP_011538284.1:p.Leu313ThrfsTer8
XR_945791.1:n.1602_1603insAC
NM_000314.7:c.1032_1033insAC	NP_000305.3:p.Leu345ThrfsTer8
NM_001304717.5:c.1551_1552insAC	NP_001291646.4:p.Leu518ThrfsTer8
NM_001304718.2:c.441_442insAC	NP_001291647.1:p.Leu148ThrfsTer8
NM_000314.8:c.1032_1033insAC MANE Select	NP_000305.3:p.Leu345ThrfsTer8