Canonical Allele Identifier: CA2579926481

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965305_87965307delinsGCT , CM000672.2:g.87965305_87965307delinsGCT	GRCh38
NC_000010.10:g.89725062_89725064delinsGCT , CM000672.1:g.89725062_89725064delinsGCT	GRCh37
NC_000010.9:g.89715042_89715044delinsGCT	NCBI36
NG_007466.2:g.106867_106869delinsGCT , LRG_311:g.106867_106869delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1138_1140delinsGCT	ENSP00000514759.2:p.Lys380Ala
ENST00000710265.1:c.*74_*76delinsGCT	ENSP00000518161.1:n.*74_*76delinsGCT
ENST00000688158.2:n.1780_1782delinsGCT
ENST00000688922.2:c.*875_*877delinsGCT	ENSP00000508742.2:n.*875_*877delinsGCT
ENST00000700021.1:c.1000_1002delinsGCT	ENSP00000514757.1:p.Lys334Ala
ENST00000700022.1:c.*384_*386delinsGCT	ENSP00000514758.1:n.*384_*386delinsGCT
ENST00000700023.1:n.2203_2205delinsGCT
ENST00000700024.1:n.2437_2439delinsGCT
ENST00000706954.1:c.1045_1047delinsGCT	ENSP00000516674.1:p.Lys349Ala
ENST00000706955.1:c.*1080_*1082delinsGCT	ENSP00000516675.1:n.*1080_*1082delinsGCT
ENST00000686459.1:c.*631_*633delinsGCT	ENSP00000508909.1:n.*631_*633delinsGCT
ENST00000688158.1:c.*1156_*1158delinsGCT	ENSP00000509254.1:n.*1156_*1158delinsGCT
ENST00000688308.1:c.1045_1047delinsGCT	ENSP00000508752.1:p.Lys349Ala
ENST00000688922.1:c.966_968delinsGCT
ENST00000693560.1:c.1564_1566delinsGCT	ENSP00000509861.1:p.Lys522Ala
ENST00000371953.8:c.1045_1047delinsGCT MANE Select	ENSP00000361021.3:p.Lys349Ala
ENST00000371953.7:c.1045_1047delinsGCT	ENSP00000361021.3:p.Lys349Ala
NM_000314.5:c.1045_1047delinsGCT	NP_000305.3:p.Lys349Ala
NM_000314.6:c.1045_1047delinsGCT	NP_000305.3:p.Lys349Ala
NM_001304717.2:c.1564_1566delinsGCT	NP_001291646.2:p.Lys522Ala
NM_001304718.1:c.454_456delinsGCT	NP_001291647.1:p.Lys152Ala
XM_006717926.2:c.1000_1002delinsGCT	XP_006717989.1:p.Lys334Ala
XM_011539982.1:c.949_951delinsGCT	XP_011538284.1:p.Lys317Ala
XR_945791.1:n.1615_1617delinsGCT
NM_000314.7:c.1045_1047delinsGCT	NP_000305.3:p.Lys349Ala
NM_001304717.5:c.1564_1566delinsGCT	NP_001291646.4:p.Lys522Ala
NM_001304718.2:c.454_456delinsGCT	NP_001291647.1:p.Lys152Ala
NM_000314.8:c.1045_1047delinsGCT MANE Select	NP_000305.3:p.Lys349Ala