Canonical Allele Identifier: CA891839428

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957879_87957881delinsCAA , CM000672.2:g.87957879_87957881delinsCAA	GRCh38
NC_000010.10:g.89717636_89717638delinsCAA , CM000672.1:g.89717636_89717638delinsCAA	GRCh37
NC_000010.9:g.89707616_89707618delinsCAA	NCBI36
NG_007466.2:g.99441_99443delinsCAA , LRG_311:g.99441_99443delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.661_663delinsCAA	ENSP00000514759.2:p.Lys221Gln
ENST00000710265.1:c.661_663delinsCAA	ENSP00000518161.1:p.Lys221Gln
ENST00000472832.3:c.661_663delinsCAA	ENSP00000483066.2:p.Lys221Gln
ENST00000688158.2:n.1396_1398delinsCAA
ENST00000688922.2:c.*491_*493delinsCAA	ENSP00000508742.2:n.*491_*493delinsCAA
ENST00000700021.1:c.616_618delinsCAA	ENSP00000514757.1:p.Lys206Gln
ENST00000700022.1:c.519_*2delinsCAA	ENSP00000514758.1:n.[c.519_*2delinsCAA;Ter173TyrextTer3]
ENST00000700023.1:n.1819_1821delinsCAA
ENST00000700024.1:n.2053_2055delinsCAA
ENST00000700025.1:n.1430_1432delinsCAA
ENST00000700026.1:n.298_300delinsCAA
ENST00000700029.1:c.495_497delinsCAA
ENST00000706954.1:c.661_663delinsCAA	ENSP00000516674.1:p.Lys221Gln
ENST00000706955.1:c.*696_*698delinsCAA	ENSP00000516675.1:n.*696_*698delinsCAA
ENST00000686459.1:c.*247_*249delinsCAA	ENSP00000508909.1:n.*247_*249delinsCAA
ENST00000688158.1:c.*772_*774delinsCAA	ENSP00000509254.1:n.*772_*774delinsCAA
ENST00000688308.1:c.661_663delinsCAA	ENSP00000508752.1:p.Lys221Gln
ENST00000688922.1:c.582_584delinsCAA
ENST00000693560.1:c.1180_1182delinsCAA	ENSP00000509861.1:p.Lys394Gln
ENST00000371953.8:c.661_663delinsCAA MANE Select	ENSP00000361021.3:p.Lys221Gln
ENST00000371953.7:c.661_663delinsCAA	ENSP00000361021.3:p.Lys221Gln
ENST00000472832.2:c.88_90delinsCAA	ENSP00000483066.1:p.Lys30Gln
NM_000314.5:c.661_663delinsCAA	NP_000305.3:p.Lys221Gln
NM_000314.6:c.661_663delinsCAA	NP_000305.3:p.Lys221Gln
NM_001304717.2:c.1180_1182delinsCAA	NP_001291646.2:p.Lys394Gln
NM_001304718.1:c.70_72delinsCAA	NP_001291647.1:p.Lys24Gln
XM_006717926.2:c.616_618delinsCAA	XP_006717989.1:p.Lys206Gln
XM_011539981.1:c.661_663delinsCAA	XP_011538283.1:p.Lys221Gln
XM_011539982.1:c.565_567delinsCAA	XP_011538284.1:p.Lys189Gln
XR_945791.1:n.1231_1233delinsCAA
NM_000314.7:c.661_663delinsCAA	NP_000305.3:p.Lys221Gln
NM_001304717.5:c.1180_1182delinsCAA	NP_001291646.4:p.Lys394Gln
NM_001304718.2:c.70_72delinsCAA	NP_001291647.1:p.Lys24Gln
NM_000314.8:c.661_663delinsCAA MANE Select	NP_000305.3:p.Lys221Gln