|
ENST00000524470.2:c.*1577_*1578del
|
ENSP00000514307.1:n.*1577_*1578del
|
|
|
ENST00000525976.6:c.3228_3229del
|
ENSP00000434831.2:p.Tyr1076Ter
|
|
|
ENST00000527481.3:c.3109_3110del
|
ENSP00000466340.2:p.Ter1037SerextTer13
|
|
|
ENST00000529370.6:n.4604_4605del
|
|
|
|
ENST00000529739.2:n.4037_4038del
|
|
|
|
ENST00000530829.2:c.*2779_*2780del
|
ENSP00000436826.2:n.*2779_*2780del
|
|
|
ENST00000531836.6:c.3228_3229del
|
ENSP00000436175.2:p.Tyr1076Ter
|
|
|
ENST00000533334.2:c.*1242+402_*1242+403del
|
ENSP00000432320.2:n.*1242+402_*1242+403del
|
|
|
ENST00000534228.2:n.5054+402_5054+403del
|
|
|
|
ENST00000699354.1:n.1330_1331del
|
|
|
|
ENST00000699355.1:c.*2728_*2729del
|
ENSP00000514328.1:n.*2728_*2729del
|
|
|
ENST00000699356.1:n.4037_4038del
|
|
|
|
ENST00000699357.1:n.5082_5083del
|
|
|
|
ENST00000699358.1:c.3200+402_3200+403del
|
ENSP00000514329.1:n.3200+402_3200+403del
|
|
|
ENST00000699359.1:c.402_403del
|
|
|
|
ENST00000699360.1:c.3186_3187del
|
ENSP00000514331.1:p.Tyr1062Ter
|
|
|
ENST00000699361.1:n.262_263del
|
|
|
|
ENST00000699362.1:c.124_125del
|
ENSP00000514332.1:p.Ter42SerextTer13
|
|
|
ENST00000699363.1:c.124_125del
|
ENSP00000514333.1:p.Ter42SerextTer13
|
|
|
ENST00000699364.1:n.228_229del
|
|
|
|
ENST00000699365.1:c.297_298del
|
ENSP00000514334.1:p.Tyr99Ter
|
|
|
ENST00000699366.1:n.111+1290_111+1291del
|
|
|
|
ENST00000699367.1:n.111+1290_111+1291del
|
|
|
|
ENST00000699368.1:c.715_716del
|
ENSP00000514335.1:n.715_716del
|
|
|
ENST00000525621.6:c.3228_3229del
MANE Select
|
ENSP00000431885.1:p.Tyr1076Ter
|
|
|
ENST00000264818.10:c.3228_3229del
|
ENSP00000264818.6:p.Tyr1076Ter
|
|
|
ENST00000524462.5:c.2673_2674del
|
ENSP00000433203.1:p.Tyr891Ter
|
|
|
ENST00000525621.5:c.3228_3229del
|
ENSP00000431885.1:p.Tyr1076Ter
|
|
|
ENST00000527481.2:c.405_406del
|
|
|
|
ENST00000529422.1:n.116+498_116+499del
|
|
|
|
ENST00000529739.1:c.297_298del
|
ENSP00000436155.1:p.Tyr99Ter
|
|
|
ENST00000530220.1:n.331+402_331+403del
|
|
|
|
ENST00000530560.5:c.337+1518_337+1519del
|
ENSP00000465291.1:n.337+1518_337+1519del
|
|
|
ENST00000592137.1:n.382_383del
|
|
|
|
NM_003331.4:c.3228_3229del , LRG_121t1:c.3228_3229del
|
NP_003322.3:p.Tyr1076Ter
|
|
|
XM_011528245.1:c.3228_3229del
|
XP_011526547.1:p.Tyr1076Ter
|
|
|
XM_011528246.1:c.2931_2932del
|
XP_011526548.1:p.Tyr977Ter
|
|
|
XM_011528247.1:c.2931_2932del
|
XP_011526549.1:p.Tyr977Ter
|
|
|
XM_011528248.1:c.3200+402_3200+403del
|
XP_011526550.1:n.3200+402_3200+403del
|
|
|
XM_011528249.1:c.1902_1903del
|
XP_011526551.1:p.Tyr634Ter
|
|
|
XM_011528251.1:c.1485_1486del
|
XP_011526553.1:p.Tyr495Ter
|
|
|
XM_011528246.3:c.2931_2932del
|
XP_011526548.1:p.Tyr977Ter
|
|
|
XM_011528249.2:c.1902_1903del
|
XP_011526551.1:p.Tyr634Ter
|
|
|
XR_001753750.1:n.3357+402_3357+403del
|
|
|
|
XR_001753751.1:n.3780_3781del
|
|
|
|
XR_002958353.1:n.4706_4707del
|
|
|
|
NM_003331.5:c.3228_3229del
MANE Select
|
NP_003322.3:p.Tyr1076Ter
|
|
|
NM_001385197.1:c.3228_3229del
|
NP_001372126.1:p.Tyr1076Ter
|
|
|
NM_001385198.1:c.3168+434_3168+435del
|
NP_001372127.1:n.3168+434_3168+435del
|
|
|
NM_001385199.1:c.3042_3043del
|
NP_001372128.1:p.Tyr1014Ter
|
|
|
NM_001385200.1:c.3225_3226del
|
NP_001372129.1:p.Tyr1075Ter
|
|
|
NM_001385201.1:c.3030_3031del
|
NP_001372130.1:p.Tyr1010Ter
|
|
|
NM_001385202.1:c.3144_3145del
|
NP_001372131.1:p.Tyr1048Ter
|
|
|
NM_001385203.1:c.3309_3310del
|
NP_001372132.1:p.Tyr1103Ter
|
|
|
NM_001385204.1:c.3438_3439del
|
NP_001372133.1:p.Tyr1146Ter
|
|
|
NM_001385205.1:c.3138_3139del
|
NP_001372134.1:p.Tyr1046Ter
|
|
|
NM_001385206.1:c.3102_3103del
|
NP_001372135.1:p.Tyr1034Ter
|
|
|
NM_001385207.1:c.3210_3211del
|
NP_001372136.1:p.Tyr1070Ter
|
|
