|
ENST00000380567.6:c.*1318del
|
ENSP00000369941.2:n.*1318del
|
|
|
ENST00000398395.8:c.*1115+629del
|
ENSP00000381432.5:n.*1115+629del
|
|
|
ENST00000464463.6:n.1788del
|
|
|
|
ENST00000490265.6:n.2154del
|
|
|
|
ENST00000682237.1:c.*1185del
|
ENSP00000507121.1:n.*1185del
|
|
|
ENST00000682562.1:c.*3027del
|
ENSP00000507874.1:n.*3027del
|
|
|
ENST00000682953.1:c.*2352del
|
ENSP00000507878.1:n.*2352del
|
|
|
ENST00000683055.1:c.*940del
|
ENSP00000508191.1:n.*940del
|
|
|
ENST00000683284.1:c.*1856del
|
ENSP00000507837.1:n.*1856del
|
|
|
ENST00000683427.1:c.*311+629del
|
ENSP00000507290.1:n.*311+629del
|
|
|
ENST00000683454.1:n.1639del
|
|
|
|
ENST00000683637.1:n.2734del
|
|
|
|
ENST00000683655.1:c.*1839del
|
ENSP00000506770.1:n.*1839del
|
|
|
ENST00000683713.1:c.*1856del
|
ENSP00000507797.1:n.*1856del
|
|
|
ENST00000684577.1:c.*1322del
|
ENSP00000507871.1:n.*1322del
|
|
|
ENST00000340096.11:c.1625del
MANE Select
|
ENSP00000344314.6:p.Leu542Ter
|
|
|
ENST00000340096.10:c.1625del
|
ENSP00000344314.6:p.Leu542Ter
|
|
|
ENST00000380550.6:c.1505del
|
ENSP00000369923.3:p.Leu502Ter
|
|
|
ENST00000380567.5:c.1205del
|
ENSP00000369941.1:p.Leu402Ter
|
|
|
ENST00000398395.7:c.1011+629del
|
ENSP00000381432.4:n.1011+629del
|
|
|
ENST00000490265.5:n.2600del
|
|
|
|
NM_003611.2:c.1625del
|
NP_003602.1:p.Leu542Ter
|
|
|
XM_005274599.2:c.1646del
|
XP_005274656.1:p.Leu549Ter
|
|
|
XM_005274602.2:c.1646del
|
XP_005274659.1:p.Leu549Ter
|
|
|
XM_005274603.2:c.1526del
|
XP_005274660.1:p.Leu509Ter
|
|
|
XM_005274604.2:c.1505del
|
XP_005274661.1:p.Leu502Ter
|
|
|
XM_005274606.2:c.1481del
|
XP_005274663.1:p.Leu494Ter
|
|
|
XM_005274607.3:c.1205del
|
XP_005274664.1:p.Leu402Ter
|
|
|
XM_011545591.1:c.1646del
|
XP_011543893.1:p.Leu549Ter
|
|
|
XM_011545592.1:c.1433del
|
XP_011543894.1:p.Leu478Ter
|
|
|
XM_011545593.1:c.1646del
|
XP_011543895.1:p.Leu549Ter
|
|
|
XM_011545594.1:c.1304del
|
XP_011543896.1:p.Leu435Ter
|
|
|
XM_011545595.1:c.1304del
|
XP_011543897.1:p.Leu435Ter
|
|
|
XM_011545596.1:c.1646del
|
XP_011543898.1:p.Leu549Ter
|
|
|
XM_011545597.1:c.1205del
|
XP_011543899.1:p.Leu402Ter
|
|
|
XM_011545598.1:c.350del
|
XP_011543900.1:p.Leu117Ter
|
|
|
XR_247288.2:n.1985del
|
|
|
|
NM_001330209.1:c.1505del
|
NP_001317138.1:p.Leu502Ter
|
|
|
NM_001330210.1:c.1205del
|
NP_001317139.1:p.Leu402Ter
|
|
|
XM_005274606.4:c.1481del
|
XP_005274663.1:p.Leu494Ter
|
|
|
XM_011545592.3:c.1433del
|
XP_011543894.1:p.Leu478Ter
|
|
|
XM_011545594.3:c.1304del
|
XP_011543896.1:p.Leu435Ter
|
|
|
XM_011545597.2:c.1205del
|
XP_011543899.1:p.Leu402Ter
|
|
|
XM_017029909.1:c.1205del
|
XP_016885398.1:p.Leu402Ter
|
|
|
XM_017029911.1:c.683del
|
XP_016885400.1:p.Leu228Ter
|
|
|
XM_024452468.1:c.350del
|
XP_024308236.1:p.Leu117Ter
|
|
|
XM_024452469.1:c.350del
|
XP_024308237.1:p.Leu117Ter
|
|
|
XM_024452470.1:c.350del
|
XP_024308238.1:p.Leu117Ter
|
|
|
XM_024452471.1:c.350del
|
XP_024308239.1:p.Leu117Ter
|
|
|
NM_003611.3:c.1625del
MANE Select
|
NP_003602.1:p.Leu542Ter
|
|
|
NM_001330209.2:c.1505del
|
NP_001317138.1:p.Leu502Ter
|
|
|
NM_001330210.2:c.1205del
|
NP_001317139.1:p.Leu402Ter
|
|
