Canonical Allele Identifier: CA2580082404

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2029465
• ClinVar RCV Id: RCV002880833

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965378_87965382dup , CM000672.2:g.87965378_87965382dup	GRCh38
NC_000010.10:g.89725135_89725139dup , CM000672.1:g.89725135_89725139dup	GRCh37
NC_000010.9:g.89715115_89715119dup	NCBI36
NG_007466.2:g.106940_106944dup , LRG_311:g.106940_106944dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1211_1215dup	ENSP00000514759.2:p.Asp406AsnfsTer?
ENST00000710265.1:c.*147_*151dup	ENSP00000518161.1:n.*147_*151dup
ENST00000688158.2:n.1853_1857dup
ENST00000688922.2:c.*948_*952dup	ENSP00000508742.2:n.*948_*952dup
ENST00000700021.1:c.1073_1077dup	ENSP00000514757.1:p.Asp360AsnfsTer?
ENST00000700022.1:c.*457_*461dup	ENSP00000514758.1:n.*457_*461dup
ENST00000700023.1:n.2276_2280dup
ENST00000700024.1:n.2510_2514dup
ENST00000706954.1:c.1118_1122dup	ENSP00000516674.1:p.Asp375AsnfsTer?
ENST00000706955.1:c.*1153_*1157dup	ENSP00000516675.1:n.*1153_*1157dup
ENST00000686459.1:c.*704_*708dup	ENSP00000508909.1:n.*704_*708dup
ENST00000688158.1:c.*1229_*1233dup	ENSP00000509254.1:n.*1229_*1233dup
ENST00000688308.1:c.1118_1122dup	ENSP00000508752.1:p.Asp375AsnfsTer?
ENST00000688922.1:c.1039_1043dup
ENST00000693560.1:c.1637_1641dup	ENSP00000509861.1:p.Asp548AsnfsTer?
ENST00000371953.8:c.1118_1122dup MANE Select	ENSP00000361021.3:p.Asp375AsnfsTer?
ENST00000371953.7:c.1118_1122dup	ENSP00000361021.3:p.Asp375AsnfsTer?
NM_000314.5:c.1118_1122dup	NP_000305.3:p.Asp375AsnfsTer?
NM_000314.6:c.1118_1122dup	NP_000305.3:p.Asp375AsnfsTer?
NM_001304717.2:c.1637_1641dup	NP_001291646.2:p.Asp548AsnfsTer?
NM_001304718.1:c.527_531dup	NP_001291647.1:p.Asp178AsnfsTer?
XM_006717926.2:c.1073_1077dup	XP_006717989.1:p.Asp360AsnfsTer?
XM_011539982.1:c.1022_1026dup	XP_011538284.1:p.Asp343AsnfsTer?
XR_945791.1:n.1688_1692dup
NM_000314.7:c.1118_1122dup	NP_000305.3:p.Asp375AsnfsTer?
NM_001304717.5:c.1637_1641dup	NP_001291646.4:p.Asp548AsnfsTer?
NM_001304718.2:c.527_531dup	NP_001291647.1:p.Asp178AsnfsTer?
NM_000314.8:c.1118_1122dup MANE Select	NP_000305.3:p.Asp375AsnfsTer?