Canonical Allele Identifier: CA891841470

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965287_87965288delinsCA , CM000672.2:g.87965287_87965288delinsCA	GRCh38
NC_000010.10:g.89725044_89725045delinsCA , CM000672.1:g.89725044_89725045delinsCA	GRCh37
NC_000010.9:g.89715024_89715025delinsCA	NCBI36
NG_007466.2:g.106849_106850delinsCA , LRG_311:g.106849_106850delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1120_1121delinsCA	ENSP00000514759.2:p.Val374Gln
ENST00000710265.1:c.*56_*57delinsCA	ENSP00000518161.1:n.*56_*57delinsCA
ENST00000688158.2:n.1762_1763delinsCA
ENST00000688922.2:c.*857_*858delinsCA	ENSP00000508742.2:n.*857_*858delinsCA
ENST00000700021.1:c.982_983delinsCA	ENSP00000514757.1:p.Val328Gln
ENST00000700022.1:c.*366_*367delinsCA	ENSP00000514758.1:n.*366_*367delinsCA
ENST00000700023.1:n.2185_2186delinsCA
ENST00000700024.1:n.2419_2420delinsCA
ENST00000706954.1:c.1027_1028delinsCA	ENSP00000516674.1:p.Val343Gln
ENST00000706955.1:c.*1062_*1063delinsCA	ENSP00000516675.1:n.*1062_*1063delinsCA
ENST00000686459.1:c.*613_*614delinsCA	ENSP00000508909.1:n.*613_*614delinsCA
ENST00000688158.1:c.*1138_*1139delinsCA	ENSP00000509254.1:n.*1138_*1139delinsCA
ENST00000688308.1:c.1027_1028delinsCA	ENSP00000508752.1:p.Val343Gln
ENST00000688922.1:c.948_949delinsCA
ENST00000693560.1:c.1546_1547delinsCA	ENSP00000509861.1:p.Val516Gln
ENST00000371953.8:c.1027_1028delinsCA MANE Select	ENSP00000361021.3:p.Val343Gln
ENST00000371953.7:c.1027_1028delinsCA	ENSP00000361021.3:p.Val343Gln
NM_000314.5:c.1027_1028delinsCA	NP_000305.3:p.Val343Gln
NM_000314.6:c.1027_1028delinsCA	NP_000305.3:p.Val343Gln
NM_001304717.2:c.1546_1547delinsCA	NP_001291646.2:p.Val516Gln
NM_001304718.1:c.436_437delinsCA	NP_001291647.1:p.Val146Gln
XM_006717926.2:c.982_983delinsCA	XP_006717989.1:p.Val328Gln
XM_011539982.1:c.931_932delinsCA	XP_011538284.1:p.Val311Gln
XR_945791.1:n.1597_1598delinsCA
NM_000314.7:c.1027_1028delinsCA	NP_000305.3:p.Val343Gln
NM_001304717.5:c.1546_1547delinsCA	NP_001291646.4:p.Val516Gln
NM_001304718.2:c.436_437delinsCA	NP_001291647.1:p.Val146Gln
NM_000314.8:c.1027_1028delinsCA MANE Select	NP_000305.3:p.Val343Gln