Canonical Allele Identifier: CA645554123

Gene: PTEN

Linked Data

• dbSNP Id: rs121913291
• COSMIC: COSM4960

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961059_87961060del , CM000672.2:g.87961059_87961060del	GRCh38
NC_000010.10:g.89720816_89720817del , CM000672.1:g.89720816_89720817del	GRCh37
NC_000010.9:g.89710796_89710797del	NCBI36
NG_007466.2:g.102621_102622del , LRG_311:g.102621_102622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1060_1061del	ENSP00000514759.2:p.Asn354Ter
ENST00000710265.1:c.967_968del	ENSP00000518161.1:p.Asn323Ter
ENST00000472832.3:c.967_968del	ENSP00000483066.2:p.Asn323Ter
ENST00000688158.2:n.1702_1703del
ENST00000688922.2:c.*797_*798del	ENSP00000508742.2:n.*797_*798del
ENST00000700021.1:c.922_923del	ENSP00000514757.1:p.Asn308Ter
ENST00000700022.1:c.*306_*307del	ENSP00000514758.1:n.*306_*307del
ENST00000700023.1:n.2125_2126del
ENST00000700024.1:n.2359_2360del
ENST00000700025.1:n.1736_1737del
ENST00000700026.1:n.604_605del
ENST00000706954.1:c.967_968del	ENSP00000516674.1:p.Asn323Ter
ENST00000706955.1:c.*1002_*1003del	ENSP00000516675.1:n.*1002_*1003del
ENST00000686459.1:c.*553_*554del	ENSP00000508909.1:n.*553_*554del
ENST00000688158.1:c.*1078_*1079del	ENSP00000509254.1:n.*1078_*1079del
ENST00000688308.1:c.967_968del	ENSP00000508752.1:p.Asn323Ter
ENST00000688922.1:c.888_889del
ENST00000693560.1:c.1486_1487del	ENSP00000509861.1:p.Asn496Ter
ENST00000371953.8:c.967_968del MANE Select	ENSP00000361021.3:p.Asn323Ter
ENST00000371953.7:c.967_968del	ENSP00000361021.3:p.Asn323Ter
ENST00000472832.2:c.394_395del	ENSP00000483066.1:p.Asn132Ter
NM_000314.5:c.967_968del	NP_000305.3:p.Asn323Ter
NM_000314.6:c.967_968del	NP_000305.3:p.Asn323Ter
NM_001304717.2:c.1486_1487del	NP_001291646.2:p.Asn496Ter
NM_001304718.1:c.376_377del	NP_001291647.1:p.Asn126Ter
XM_006717926.2:c.922_923del	XP_006717989.1:p.Asn308Ter
XM_011539981.1:c.967_968del	XP_011538283.1:p.Asn323Ter
XM_011539982.1:c.871_872del	XP_011538284.1:p.Asn291Ter
XR_945791.1:n.1537_1538del
NM_000314.7:c.967_968del	NP_000305.3:p.Asn323Ter
NM_001304717.5:c.1486_1487del	NP_001291646.4:p.Asn496Ter
NM_001304718.2:c.376_377del	NP_001291647.1:p.Asn126Ter
NM_000314.8:c.967_968del MANE Select	NP_000305.3:p.Asn323Ter