Canonical Allele Identifier: CA2573145904

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87864508_87864509dup , CM000672.2:g.87864508_87864509dup	GRCh38
NC_000010.10:g.89624265_89624266dup , CM000672.1:g.89624265_89624266dup	GRCh37
NC_000010.9:g.89614245_89614246dup	NCBI36
NG_007466.2:g.6070_6071dup , LRG_311:g.6070_6071dup
NG_033079.1:g.3931_3932dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.39_40dup	ENSP00000514759.2:p.Arg14LysfsTer11
ENST00000710265.1:c.39_40dup	ENSP00000518161.1:p.Arg14LysfsTer11
ENST00000472832.3:c.39_40dup	ENSP00000483066.2:p.Arg14LysfsTer11
ENST00000688922.2:c.39_40dup	ENSP00000508742.2:p.Arg14LysfsTer11
ENST00000700021.1:c.39_40dup	ENSP00000514757.1:p.Arg14LysfsTer11
ENST00000700022.1:c.39_40dup	ENSP00000514758.1:p.Arg14LysfsTer11
ENST00000706954.1:c.39_40dup	ENSP00000516674.1:p.Arg14LysfsTer11
ENST00000706955.1:c.39_40dup	ENSP00000516675.1:p.Arg14LysfsTer11
ENST00000686459.1:c.39_40dup	ENSP00000508909.1:p.Arg14LysfsTer11
ENST00000688158.1:c.39_40dup	ENSP00000509254.1:p.Arg14LysfsTer11
ENST00000688308.1:c.39_40dup	ENSP00000508752.1:p.Arg14LysfsTer11
ENST00000693560.1:c.558_559dup	ENSP00000509861.1:p.Arg187LysfsTer11
ENST00000371953.8:c.39_40dup MANE Select	ENSP00000361021.3:p.Arg14LysfsTer11
ENST00000371953.7:c.39_40dup	ENSP00000361021.3:p.Arg14LysfsTer11
ENST00000462694.1:n.41_42dup
ENST00000487939.1:n.60_61dup
ENST00000610634.1:c.-64_-63dup	ENSP00000477517.1:n.-64_-63dup
ENST00000618586.1:n.8_9dup
NM_000314.5:c.39_40dup	NP_000305.3:p.Arg14LysfsTer11
NM_000314.6:c.39_40dup	NP_000305.3:p.Arg14LysfsTer11
NM_001304717.2:c.558_559dup	NP_001291646.2:p.Arg187LysfsTer11
NM_001304718.1:c.-667_-666dup	NP_001291647.1:n.-667_-666dup
XM_006717926.2:c.39_40dup	XP_006717989.1:p.Arg14LysfsTer11
XM_011539981.1:c.39_40dup	XP_011538283.1:p.Arg14LysfsTer11
XR_945789.1:n.751_752dup
XR_945790.1:n.751_752dup
XR_945791.1:n.751_752dup
NM_000314.7:c.39_40dup	NP_000305.3:p.Arg14LysfsTer11
NM_001304717.5:c.558_559dup	NP_001291646.4:p.Arg187LysfsTer11
NM_001304718.2:c.-667_-666dup	NP_001291647.1:n.-667_-666dup
NM_000314.8:c.39_40dup MANE Select	NP_000305.3:p.Arg14LysfsTer11