Canonical Allele Identifier: CA3275503552

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933129_87933131delinsCGG , CM000672.2:g.87933129_87933131delinsCGG	GRCh38
NC_000010.10:g.89692886_89692888delinsCGG , CM000672.1:g.89692886_89692888delinsCGG	GRCh37
NC_000010.9:g.89682866_89682868delinsCGG	NCBI36
NG_007466.2:g.74691_74693delinsCGG , LRG_311:g.74691_74693delinsCGG

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.370_372delinsCGG MANE Select	NP_000305.3:p.Cys124Arg
ENST00000371953.8:c.370_372delinsCGG MANE Select	ENSP00000361021.3:p.Cys124Arg
NM_000314.5:c.370_372delinsCGG	NP_000305.3:p.Cys124Arg
NM_000314.6:c.370_372delinsCGG	NP_000305.3:p.Cys124Arg
NM_000314.7:c.370_372delinsCGG	NP_000305.3:p.Cys124Arg
NM_001304717.2:c.889_891delinsCGG	NP_001291646.2:p.Cys297Arg
NM_001304717.5:c.889_891delinsCGG	NP_001291646.4:p.Cys297Arg
NM_001304718.1:c.-381_-379delinsCGG	NP_001291647.1:n.-381_-379delinsCGG
NM_001304718.2:c.-381_-379delinsCGG	NP_001291647.1:n.-381_-379delinsCGG
ENST00000371953.7:c.370_372delinsCGG	ENSP00000361021.3:p.Cys124Arg
ENST00000472832.3:c.370_372delinsCGG	ENSP00000483066.2:p.Cys124Arg
ENST00000498703.1:n.196_198delinsCGG
ENST00000610634.1:c.268_270delinsCGG	ENSP00000477517.1:p.Cys90Arg
ENST00000686459.1:c.370_372delinsCGG	ENSP00000508909.1:p.Cys124Arg
ENST00000688158.1:c.*481_*483delinsCGG	ENSP00000509254.1:n.*481_*483delinsCGG
ENST00000688158.2:n.1105_1107delinsCGG
ENST00000688308.1:c.370_372delinsCGG	ENSP00000508752.1:p.Cys124Arg
ENST00000688922.1:c.291_293delinsCGG
ENST00000688922.2:c.*200_*202delinsCGG	ENSP00000508742.2:n.*200_*202delinsCGG
ENST00000693560.1:c.889_891delinsCGG	ENSP00000509861.1:p.Cys297Arg
ENST00000700021.1:c.325_327delinsCGG	ENSP00000514757.1:p.Cys109Arg
ENST00000700022.1:c.370_372delinsCGG	ENSP00000514758.1:p.Cys124Arg
ENST00000700029.1:c.204_206delinsCGG
ENST00000700029.2:c.370_372delinsCGG	ENSP00000514759.2:p.Cys124Arg
ENST00000706954.1:c.370_372delinsCGG	ENSP00000516674.1:p.Cys124Arg
ENST00000706955.1:c.*405_*407delinsCGG	ENSP00000516675.1:n.*405_*407delinsCGG
ENST00000710265.1:c.370_372delinsCGG	ENSP00000518161.1:p.Cys124Arg
XM_006717926.2:c.325_327delinsCGG	XP_006717989.1:p.Cys109Arg
XM_011539981.1:c.370_372delinsCGG	XP_011538283.1:p.Cys124Arg
XM_011539982.1:c.274_276delinsCGG	XP_011538284.1:p.Cys92Arg
XR_945789.1:n.1082_1084delinsCGG
XR_945790.1:n.1082_1084delinsCGG
XR_945791.1:n.1082_1084delinsCGG