Canonical Allele Identifier: CA2695203395

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952139dup , CM000672.2:g.87952139dup	GRCh38
NC_000010.10:g.89711896dup , CM000672.1:g.89711896dup	GRCh37
NC_000010.9:g.89701876dup	NCBI36
NG_007466.2:g.93701dup , LRG_311:g.93701dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.514dup	ENSP00000514759.2:p.Arg172LysfsTer8
ENST00000710265.1:c.514dup	ENSP00000518161.1:p.Arg172LysfsTer8
ENST00000472832.3:c.514dup	ENSP00000483066.2:p.Arg172LysfsTer8
ENST00000688158.2:n.1249dup
ENST00000688922.2:c.*344dup	ENSP00000508742.2:n.*344dup
ENST00000700021.1:c.469dup	ENSP00000514757.1:p.Arg157LysfsTer8
ENST00000700022.1:c.493-5714dup	ENSP00000514758.1:n.493-5714dup
ENST00000700023.1:n.1672dup
ENST00000700024.1:n.1906dup
ENST00000700025.1:n.1283dup
ENST00000700029.1:c.348dup
ENST00000706954.1:c.514dup	ENSP00000516674.1:p.Arg172LysfsTer8
ENST00000706955.1:c.*549dup	ENSP00000516675.1:n.*549dup
ENST00000686459.1:c.*100dup	ENSP00000508909.1:n.*100dup
ENST00000688158.1:c.*625dup	ENSP00000509254.1:n.*625dup
ENST00000688308.1:c.514dup	ENSP00000508752.1:p.Arg172LysfsTer8
ENST00000688922.1:c.435dup
ENST00000693560.1:c.1033dup	ENSP00000509861.1:p.Arg345LysfsTer8
ENST00000371953.8:c.514dup MANE Select	ENSP00000361021.3:p.Arg172LysfsTer8
ENST00000371953.7:c.514dup	ENSP00000361021.3:p.Arg172LysfsTer8
NM_000314.5:c.514dup	NP_000305.3:p.Arg172LysfsTer8
NM_000314.6:c.514dup	NP_000305.3:p.Arg172LysfsTer8
NM_001304717.2:c.1033dup	NP_001291646.2:p.Arg345LysfsTer8
NM_001304718.1:c.-78dup	NP_001291647.1:n.-78dup
XM_006717926.2:c.469dup	XP_006717989.1:p.Arg157LysfsTer8
XM_011539981.1:c.514dup	XP_011538283.1:p.Arg172LysfsTer8
XM_011539982.1:c.418dup	XP_011538284.1:p.Arg140LysfsTer8
XR_945789.1:n.1385dup
XR_945790.1:n.1502dup
XR_945791.1:n.1205-5714dup
NM_000314.7:c.514dup	NP_000305.3:p.Arg172LysfsTer8
NM_001304717.5:c.1033dup	NP_001291646.4:p.Arg345LysfsTer8
NM_001304718.2:c.-78dup	NP_001291647.1:n.-78dup
NM_000314.8:c.514dup MANE Select	NP_000305.3:p.Arg172LysfsTer8