Canonical Allele Identifier: CA2695200872

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2674415
• ClinVar RCV Id: RCV003452611

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957879_87957901del , CM000672.2:g.87957879_87957901del	GRCh38
NC_000010.10:g.89717636_89717658del , CM000672.1:g.89717636_89717658del	GRCh37
NC_000010.9:g.89707616_89707638del	NCBI36
NG_007466.2:g.99441_99463del , LRG_311:g.99441_99463del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.661_683del	ENSP00000514759.2:p.Lys221PhefsTer14
ENST00000710265.1:c.661_683del	ENSP00000518161.1:p.Lys221PhefsTer14
ENST00000472832.3:c.661_683del	ENSP00000483066.2:p.Lys221PhefsTer14
ENST00000688158.2:n.1396_1418del
ENST00000688922.2:c.*491_*513del	ENSP00000508742.2:n.*491_*513del
ENST00000700021.1:c.616_638del	ENSP00000514757.1:p.Lys206PhefsTer14
ENST00000700022.1:c.519_*22del	ENSP00000514758.1:n.[c.519_*22del;Ter173T...
ENST00000700023.1:n.1819_1841del
ENST00000700024.1:n.2053_2075del
ENST00000700025.1:n.1430_1452del
ENST00000700026.1:n.298_320del
ENST00000700029.1:c.495_517del
ENST00000706954.1:c.661_683del	ENSP00000516674.1:p.Lys221PhefsTer14
ENST00000706955.1:c.*696_*718del	ENSP00000516675.1:n.*696_*718del
ENST00000686459.1:c.*247_*269del	ENSP00000508909.1:n.*247_*269del
ENST00000688158.1:c.*772_*794del	ENSP00000509254.1:n.*772_*794del
ENST00000688308.1:c.661_683del	ENSP00000508752.1:p.Lys221PhefsTer14
ENST00000688922.1:c.582_604del
ENST00000693560.1:c.1180_1202del	ENSP00000509861.1:p.Lys394PhefsTer14
ENST00000371953.8:c.661_683del MANE Select	ENSP00000361021.3:p.Lys221PhefsTer14
ENST00000371953.7:c.661_683del	ENSP00000361021.3:p.Lys221PhefsTer14
ENST00000472832.2:c.88_110del	ENSP00000483066.1:p.Lys30PhefsTer14
NM_000314.5:c.661_683del	NP_000305.3:p.Lys221PhefsTer14
NM_000314.6:c.661_683del	NP_000305.3:p.Lys221PhefsTer14
NM_001304717.2:c.1180_1202del	NP_001291646.2:p.Lys394PhefsTer14
NM_001304718.1:c.70_92del	NP_001291647.1:p.Lys24PhefsTer14
XM_006717926.2:c.616_638del	XP_006717989.1:p.Lys206PhefsTer14
XM_011539981.1:c.661_683del	XP_011538283.1:p.Lys221PhefsTer14
XM_011539982.1:c.565_587del	XP_011538284.1:p.Lys189PhefsTer14
XR_945791.1:n.1231_1253del
NM_000314.7:c.661_683del	NP_000305.3:p.Lys221PhefsTer14
NM_001304717.5:c.1180_1202del	NP_001291646.4:p.Lys394PhefsTer14
NM_001304718.2:c.70_92del	NP_001291647.1:p.Lys24PhefsTer14
NM_000314.8:c.661_683del MANE Select	NP_000305.3:p.Lys221PhefsTer14