Canonical Allele Identifier: CA2579926479
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965305_87965307delinsTTG , CM000672.2:g.87965305_87965307delinsTTG GRCh38
NC_000010.10:g.89725062_89725064delinsTTG , CM000672.1:g.89725062_89725064delinsTTG GRCh37
NC_000010.9:g.89715042_89715044delinsTTG NCBI36
NG_007466.2:g.106867_106869delinsTTG , LRG_311:g.106867_106869delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1138_1140delinsTTG ENSP00000514759.2:p.Lys380Leu
ENST00000710265.1:c.*74_*76delinsTTG ENSP00000518161.1:n.*74_*76delinsTTG
ENST00000688158.2:n.1780_1782delinsTTG
ENST00000688922.2:c.*875_*877delinsTTG ENSP00000508742.2:n.*875_*877delinsTTG
ENST00000700021.1:c.1000_1002delinsTTG ENSP00000514757.1:p.Lys334Leu
ENST00000700022.1:c.*384_*386delinsTTG ENSP00000514758.1:n.*384_*386delinsTTG
ENST00000700023.1:n.2203_2205delinsTTG
ENST00000700024.1:n.2437_2439delinsTTG
ENST00000706954.1:c.1045_1047delinsTTG ENSP00000516674.1:p.Lys349Leu
ENST00000706955.1:c.*1080_*1082delinsTTG ENSP00000516675.1:n.*1080_*1082delinsTTG
ENST00000686459.1:c.*631_*633delinsTTG ENSP00000508909.1:n.*631_*633delinsTTG
ENST00000688158.1:c.*1156_*1158delinsTTG ENSP00000509254.1:n.*1156_*1158delinsTTG
ENST00000688308.1:c.1045_1047delinsTTG ENSP00000508752.1:p.Lys349Leu
ENST00000688922.1:c.966_968delinsTTG
ENST00000693560.1:c.1564_1566delinsTTG ENSP00000509861.1:p.Lys522Leu
ENST00000371953.8:c.1045_1047delinsTTG MANE Select ENSP00000361021.3:p.Lys349Leu
ENST00000371953.7:c.1045_1047delinsTTG ENSP00000361021.3:p.Lys349Leu
NM_000314.5:c.1045_1047delinsTTG NP_000305.3:p.Lys349Leu
NM_000314.6:c.1045_1047delinsTTG NP_000305.3:p.Lys349Leu
NM_001304717.2:c.1564_1566delinsTTG NP_001291646.2:p.Lys522Leu
NM_001304718.1:c.454_456delinsTTG NP_001291647.1:p.Lys152Leu
XM_006717926.2:c.1000_1002delinsTTG XP_006717989.1:p.Lys334Leu
XM_011539982.1:c.949_951delinsTTG XP_011538284.1:p.Lys317Leu
XR_945791.1:n.1615_1617delinsTTG
NM_000314.7:c.1045_1047delinsTTG NP_000305.3:p.Lys349Leu
NM_001304717.5:c.1564_1566delinsTTG NP_001291646.4:p.Lys522Leu
NM_001304718.2:c.454_456delinsTTG NP_001291647.1:p.Lys152Leu
NM_000314.8:c.1045_1047delinsTTG MANE Select NP_000305.3:p.Lys349Leu