Canonical Allele Identifier: CA2825001726

Gene: PTEN

Linked Data

• ClinVar Variation Id: 3231163
• ClinVar RCV Id: RCV004525234

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952215_87952216delinsTA , CM000672.2:g.87952215_87952216delinsTA	GRCh38
NC_000010.10:g.89711972_89711973delinsTA , CM000672.1:g.89711972_89711973delinsTA	GRCh37
NC_000010.9:g.89701952_89701953delinsTA	NCBI36
NG_007466.2:g.93777_93778delinsTA , LRG_311:g.93777_93778delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.590_591delinsTA	ENSP00000514759.2:p.Lys197Ile
ENST00000710265.1:c.590_591delinsTA	ENSP00000518161.1:p.Lys197Ile
ENST00000472832.3:c.590_591delinsTA	ENSP00000483066.2:p.Lys197Ile
ENST00000688158.2:n.1325_1326delinsTA
ENST00000688922.2:c.*420_*421delinsTA	ENSP00000508742.2:n.*420_*421delinsTA
ENST00000700021.1:c.545_546delinsTA	ENSP00000514757.1:p.Lys182Ile
ENST00000700022.1:c.493-5638_493-5637delinsTA	ENSP00000514758.1:n.493-5638_493-5637delinsTA
ENST00000700023.1:n.1748_1749delinsTA
ENST00000700024.1:n.1982_1983delinsTA
ENST00000700025.1:n.1359_1360delinsTA
ENST00000700029.1:c.424_425delinsTA
ENST00000706954.1:c.590_591delinsTA	ENSP00000516674.1:p.Lys197Ile
ENST00000706955.1:c.*625_*626delinsTA	ENSP00000516675.1:n.*625_*626delinsTA
ENST00000686459.1:c.*176_*177delinsTA	ENSP00000508909.1:n.*176_*177delinsTA
ENST00000688158.1:c.*701_*702delinsTA	ENSP00000509254.1:n.*701_*702delinsTA
ENST00000688308.1:c.590_591delinsTA	ENSP00000508752.1:p.Lys197Ile
ENST00000688922.1:c.511_512delinsTA
ENST00000693560.1:c.1109_1110delinsTA	ENSP00000509861.1:p.Lys370Ile
ENST00000371953.8:c.590_591delinsTA MANE Select	ENSP00000361021.3:p.Lys197Ile
ENST00000371953.7:c.590_591delinsTA	ENSP00000361021.3:p.Lys197Ile
ENST00000472832.2:c.17_18delinsTA	ENSP00000483066.1:p.Lys6Ile
NM_000314.5:c.590_591delinsTA	NP_000305.3:p.Lys197Ile
NM_000314.6:c.590_591delinsTA	NP_000305.3:p.Lys197Ile
NM_001304717.2:c.1109_1110delinsTA	NP_001291646.2:p.Lys370Ile
NM_001304718.1:c.-2_-1delinsTA	NP_001291647.1:n.-2_-1delinsTA
XM_006717926.2:c.545_546delinsTA	XP_006717989.1:p.Lys182Ile
XM_011539981.1:c.590_591delinsTA	XP_011538283.1:p.Lys197Ile
XM_011539982.1:c.494_495delinsTA	XP_011538284.1:p.Lys165Ile
XR_945791.1:n.1205-5638_1205-5637delinsTA
NM_000314.7:c.590_591delinsTA	NP_000305.3:p.Lys197Ile
NM_001304717.5:c.1109_1110delinsTA	NP_001291646.4:p.Lys370Ile
NM_001304718.2:c.-2_-1delinsTA	NP_001291647.1:n.-2_-1delinsTA
NM_000314.8:c.590_591delinsTA MANE Select	NP_000305.3:p.Lys197Ile