Canonical Allele Identifier: CA2579986126

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894069_87894070delinsGC , CM000672.2:g.87894069_87894070delinsGC	GRCh38
NC_000010.10:g.89653826_89653827delinsGC , CM000672.1:g.89653826_89653827delinsGC	GRCh37
NC_000010.9:g.89643806_89643807delinsGC	NCBI36
NG_007466.2:g.35631_35632delinsGC , LRG_311:g.35631_35632delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.124_125delinsGC	ENSP00000514759.2:p.Leu42Ala
ENST00000710265.1:c.124_125delinsGC	ENSP00000518161.1:p.Leu42Ala
ENST00000472832.3:c.124_125delinsGC	ENSP00000483066.2:p.Leu42Ala
ENST00000688158.2:n.899+13631_899+13632delinsGC
ENST00000688922.2:c.124_125delinsGC	ENSP00000508742.2:p.Leu42Ala
ENST00000700021.1:c.124_125delinsGC	ENSP00000514757.1:p.Leu42Ala
ENST00000700022.1:c.124_125delinsGC	ENSP00000514758.1:p.Leu42Ala
ENST00000706954.1:c.124_125delinsGC	ENSP00000516674.1:p.Leu42Ala
ENST00000706955.1:c.*159_*160delinsGC	ENSP00000516675.1:n.*159_*160delinsGC
ENST00000686459.1:c.124_125delinsGC	ENSP00000508909.1:p.Leu42Ala
ENST00000688158.1:c.*275+13631_*275+13632delinsGC	ENSP00000509254.1:n.*275+13631_*275+13632delinsGC
ENST00000688308.1:c.124_125delinsGC	ENSP00000508752.1:p.Leu42Ala
ENST00000693560.1:c.643_644delinsGC	ENSP00000509861.1:p.Leu215Ala
ENST00000371953.8:c.124_125delinsGC MANE Select	ENSP00000361021.3:p.Leu42Ala
ENST00000371953.7:c.124_125delinsGC	ENSP00000361021.3:p.Leu42Ala
ENST00000462694.1:n.126_127delinsGC
ENST00000610634.1:c.22_23delinsGC	ENSP00000477517.1:p.Leu8Ala
NM_000314.5:c.124_125delinsGC	NP_000305.3:p.Leu42Ala
NM_000314.6:c.124_125delinsGC	NP_000305.3:p.Leu42Ala
NM_001304717.2:c.643_644delinsGC	NP_001291646.2:p.Leu215Ala
NM_001304718.1:c.-582_-581delinsGC	NP_001291647.1:n.-582_-581delinsGC
XM_006717926.2:c.124_125delinsGC	XP_006717989.1:p.Leu42Ala
XM_011539981.1:c.124_125delinsGC	XP_011538283.1:p.Leu42Ala
XM_011539982.1:c.68+13631_68+13632delinsGC	XP_011538284.1:n.68+13631_68+13632delinsGC
XR_945789.1:n.836_837delinsGC
XR_945790.1:n.836_837delinsGC
XR_945791.1:n.836_837delinsGC
NM_000314.7:c.124_125delinsGC	NP_000305.3:p.Leu42Ala
NM_001304717.5:c.643_644delinsGC	NP_001291646.4:p.Leu215Ala
NM_001304718.2:c.-582_-581delinsGC	NP_001291647.1:n.-582_-581delinsGC
NM_000314.8:c.124_125delinsGC MANE Select	NP_000305.3:p.Leu42Ala