|
ENST00000396420.8:c.1780del
(POMGNT1)
|
ENSP00000379698.4:p.Ala594ProfsTer29
|
|
|
ENST00000497439.6:n.1952del
(POMGNT1)
|
|
|
|
ENST00000684817.1:n.2140del
(POMGNT1)
|
|
|
|
ENST00000684898.1:n.2342del
(POMGNT1)
|
|
|
|
ENST00000685230.1:c.*1090del
(POMGNT1)
|
ENSP00000510305.1:n.*1090del
|
|
|
ENST00000685275.1:n.2327del
(POMGNT1)
|
|
|
|
ENST00000685444.1:c.1681del
(POMGNT1)
|
ENSP00000510762.1:p.Ala561ProfsTer29
|
|
|
ENST00000685704.1:n.2446del
(POMGNT1)
|
|
|
|
ENST00000685833.1:n.4173del
(POMGNT1)
|
|
|
|
ENST00000686252.1:n.2854del
(POMGNT1)
|
|
|
|
ENST00000686379.1:c.*904del
(POMGNT1)
|
ENSP00000508913.1:n.*904del
|
|
|
ENST00000686724.1:n.3467del
(POMGNT1)
|
|
|
|
ENST00000686737.1:c.1780del
(POMGNT1)
|
ENSP00000508736.1:p.Ala594ProfsTer29
|
|
|
ENST00000687112.1:n.2646del
(POMGNT1)
|
|
|
|
ENST00000687149.1:c.1819del
(POMGNT1)
|
ENSP00000509745.1:p.Ala607ProfsTer29
|
|
|
ENST00000687197.1:c.*720del
(POMGNT1)
|
ENSP00000510749.1:n.*720del
|
|
|
ENST00000687235.1:n.3857del
(POMGNT1)
|
|
|
|
ENST00000687613.1:n.2420del
(POMGNT1)
|
|
|
|
ENST00000687683.1:c.1780del
(POMGNT1)
|
ENSP00000508522.1:p.Ala594ProfsTer29
|
|
|
ENST00000688032.1:n.2317del
(POMGNT1)
|
|
|
|
ENST00000688596.1:n.2431del
(POMGNT1)
|
|
|
|
ENST00000688608.1:c.1681del
(POMGNT1)
|
ENSP00000508890.1:p.Ala561ProfsTer29
|
|
|
ENST00000689031.1:n.2232del
(POMGNT1)
|
|
|
|
ENST00000689756.1:c.*1412del
(POMGNT1)
|
ENSP00000509023.1:n.*1412del
|
|
|
ENST00000690377.1:n.2127del
(POMGNT1)
|
|
|
|
ENST00000690678.1:c.1780del
(POMGNT1)
|
ENSP00000508703.1:p.Ala594ProfsTer29
|
|
|
ENST00000691209.1:c.*720del
(POMGNT1)
|
ENSP00000510112.1:n.*720del
|
|
|
ENST00000691243.1:c.*171del
(POMGNT1)
|
ENSP00000510654.1:n.*171del
|
|
|
ENST00000692202.1:n.2355del
(POMGNT1)
|
|
|
|
ENST00000692322.1:c.*1567del
(POMGNT1)
|
ENSP00000509017.1:n.*1567del
|
|
|
ENST00000692369.1:c.1780del
(POMGNT1)
|
ENSP00000508453.1:p.Ala594ProfsTer29
|
|
|
ENST00000692599.1:n.3655del
(POMGNT1)
|
|
|
|
ENST00000692635.1:c.*655del
(POMGNT1)
|
ENSP00000508425.1:n.*655del
|
|
|
ENST00000693168.1:n.3556del
(POMGNT1)
|
|
|
|
ENST00000693218.1:c.*341del
(POMGNT1)
|
ENSP00000510577.1:n.*341del
|
|
|
ENST00000693223.1:n.2728del
(POMGNT1)
|
|
|
|
ENST00000371984.8:c.1780del
(POMGNT1)
MANE Select
|
ENSP00000361052.3:p.Ala594ProfsTer29
|
|
|
ENST00000371984.7:c.1780del
(POMGNT1)
|
ENSP00000361052.3:p.Ala594ProfsTer29
|
|
|
ENST00000371992.1:c.1780del
(POMGNT1)
|
ENSP00000361060.1:p.Ala594ProfsTer29
|
|
|
ENST00000396420.7:c.*1449del
(POMGNT1)
|
ENSP00000379698.3:n.*1449del
|
|
|
ENST00000480972.1:n.429del
(POMGNT1)
|
|
|
|
NM_001243766.1:c.1780del
(POMGNT1)
|
NP_001230695.1:p.Ala594ProfsTer30
|
|
|
NM_001290129.1:c.1714del
(POMGNT1)
|
NP_001277058.1:p.Ala572ProfsTer?
|
|
|
NM_001290130.1:c.1351del
(POMGNT1)
|
NP_001277059.1:p.Ala451ProfsTer?
|
|
|
NM_017739.3:c.1780del
(POMGNT1)
|
NP_060209.3:p.Ala594ProfsTer?
|
|
|
XM_005271010.1:c.1780del
(POMGNT1)
|
XP_005271067.1:p.Ala594ProfsTer29
|
|
|
XM_006710755.1:c.1780del
(POMGNT1)
|
XP_006710818.1:p.Ala594ProfsTer29
|
|
|
XM_006710756.1:c.1780del
(POMGNT1)
|
XP_006710819.1:p.Ala594ProfsTer29
|
|
|
XM_011540460.1:c.678+4551del
(TSPAN1)
|
XP_011538762.1:n.678+4551del
|
|
|
XM_011540461.1:c.633+4551del
(TSPAN1)
|
XP_011538763.1:n.633+4551del
|
|
|
XM_011541759.1:c.1714del
(POMGNT1)
|
XP_011540061.1:p.Ala572ProfsTer29
|
|
|
XM_011541760.1:c.1714del
(POMGNT1)
|
XP_011540062.1:p.Ala572ProfsTer29
|
|
|
XM_011541761.1:c.688del
(POMGNT1)
|
XP_011540063.1:p.Ala230ProfsTer29
|
|
|
XM_011540460.3:c.678+4551del
(TSPAN1)
|
XP_011538762.1:n.678+4551del
|
|
|
XM_011541760.3:c.1714del
(POMGNT1)
|
XP_011540062.1:p.Ala572ProfsTer29
|
|
|
XM_017001690.1:c.1780del
(POMGNT1)
|
XP_016857179.1:p.Ala594ProfsTer29
|
|
|
NM_001243766.2:c.1780del
(POMGNT1)
|
NP_001230695.2:p.Ala594ProfsTer29
|
|
|
NM_001290129.2:c.1714del
(POMGNT1)
|
NP_001277058.2:p.Ala572ProfsTer29
|
|
|
NM_001290130.2:c.1351del
(POMGNT1)
|
NP_001277059.2:p.Ala451ProfsTer29
|
|
|
NM_017739.4:c.1780del
(POMGNT1)
MANE Select
|
NP_060209.4:p.Ala594ProfsTer29
|
|
