|
ENST00000396420.8:c.1245_1247del
(POMGNT1)
|
ENSP00000379698.4:p.Glu415del
|
|
|
ENST00000477114.2:n.1807_1809del
(POMGNT1)
|
|
|
|
ENST00000497439.6:n.1417_1419del
(POMGNT1)
|
|
|
|
ENST00000684817.1:n.1605_1607del
(POMGNT1)
|
|
|
|
ENST00000684898.1:n.1807_1809del
(POMGNT1)
|
|
|
|
ENST00000685230.1:c.*555_*557del
(POMGNT1)
|
ENSP00000510305.1:n.*555_*557del
|
|
|
ENST00000685275.1:n.1792_1794del
(POMGNT1)
|
|
|
|
ENST00000685444.1:c.1146_1148del
(POMGNT1)
|
ENSP00000510762.1:p.Glu382del
|
|
|
ENST00000685704.1:n.1807_1809del
(POMGNT1)
|
|
|
|
ENST00000685775.1:n.2772_2774del
(POMGNT1)
|
|
|
|
ENST00000685833.1:n.2123_2125del
(POMGNT1)
|
|
|
|
ENST00000686252.1:n.2319_2321del
(POMGNT1)
|
|
|
|
ENST00000686379.1:c.*369_*371del
(POMGNT1)
|
ENSP00000508913.1:n.*369_*371del
|
|
|
ENST00000686724.1:n.1417_1419del
(POMGNT1)
|
|
|
|
ENST00000686737.1:c.1245_1247del
(POMGNT1)
|
ENSP00000508736.1:p.Glu415del
|
|
|
ENST00000687112.1:n.2111_2113del
(POMGNT1)
|
|
|
|
ENST00000687149.1:c.1245_1247del
(POMGNT1)
|
ENSP00000509745.1:p.Glu415del
|
|
|
ENST00000687197.1:c.*185_*187del
(POMGNT1)
|
ENSP00000510749.1:n.*185_*187del
|
|
|
ENST00000687235.1:n.1807_1809del
(POMGNT1)
|
|
|
|
ENST00000687613.1:n.1995_1997del
(POMGNT1)
|
|
|
|
ENST00000687683.1:c.1245_1247del
(POMGNT1)
|
ENSP00000508522.1:p.Glu415del
|
|
|
ENST00000688032.1:n.1807_1809del
(POMGNT1)
|
|
|
|
ENST00000688596.1:n.1896_1898del
(POMGNT1)
|
|
|
|
ENST00000688608.1:c.1146_1148del
(POMGNT1)
|
ENSP00000508890.1:p.Glu382del
|
|
|
ENST00000688919.1:n.2441_2443del
(POMGNT1)
|
|
|
|
ENST00000689031.1:n.1807_1809del
(POMGNT1)
|
|
|
|
ENST00000689717.1:n.1417_1419del
(POMGNT1)
|
|
|
|
ENST00000689756.1:c.*877_*879del
(POMGNT1)
|
ENSP00000509023.1:n.*877_*879del
|
|
|
ENST00000690377.1:n.1592_1594del
(POMGNT1)
|
|
|
|
ENST00000690678.1:c.1245_1247del
(POMGNT1)
|
ENSP00000508703.1:p.Glu415del
|
|
|
ENST00000691209.1:c.*185_*187del
(POMGNT1)
|
ENSP00000510112.1:n.*185_*187del
|
|
|
ENST00000691243.1:c.1245_1247del
(POMGNT1)
|
ENSP00000510654.1:p.Glu415del
|
|
|
ENST00000692169.1:n.1394_1396del
(POMGNT1)
|
|
|
|
ENST00000692202.1:n.1820_1822del
(POMGNT1)
|
|
|
|
ENST00000692322.1:c.*1097_*1099del
(POMGNT1)
|
ENSP00000509017.1:n.*1097_*1099del
|
|
|
ENST00000692369.1:c.1245_1247del
(POMGNT1)
|
ENSP00000508453.1:p.Glu415del
|
|
|
ENST00000692599.1:n.1807_1809del
(POMGNT1)
|
|
|
|
ENST00000692635.1:c.*185_*187del
(POMGNT1)
|
ENSP00000508425.1:n.*185_*187del
|
|
|
ENST00000693168.1:n.1506_1508del
(POMGNT1)
|
|
|
|
ENST00000693218.1:c.1245_1247del
(POMGNT1)
|
ENSP00000510577.1:p.Glu415del
|
|
|
ENST00000693223.1:n.2193_2195del
(POMGNT1)
|
|
|
|
ENST00000693365.1:n.3879_3881del
(POMGNT1)
|
|
|
|
ENST00000371984.8:c.1245_1247del
(POMGNT1)
MANE Select
|
ENSP00000361052.3:p.Glu415del
|
|
|
ENST00000371984.7:c.1245_1247del
(POMGNT1)
|
ENSP00000361052.3:p.Glu415del
|
|
|
ENST00000371992.1:c.1245_1247del
(POMGNT1)
|
ENSP00000361060.1:p.Glu415del
|
|
|
ENST00000396420.7:c.*914_*916del
(POMGNT1)
|
ENSP00000379698.3:n.*914_*916del
|
|
|
ENST00000485714.1:n.631_633del
(POMGNT1)
|
|
|
|
NM_001243766.1:c.1245_1247del
(POMGNT1)
|
NP_001230695.1:p.Glu415del
|
|
|
NM_001290129.1:c.1179_1181del
(POMGNT1)
|
NP_001277058.1:p.Glu393del
|
|
|
NM_001290130.1:c.816_818del
(POMGNT1)
|
NP_001277059.1:p.Glu272del
|
|
|
NM_017739.3:c.1245_1247del
(POMGNT1)
|
NP_060209.3:p.Glu415del
|
|
|
XM_005271010.1:c.1245_1247del
(POMGNT1)
|
XP_005271067.1:p.Glu415del
|
|
|
XM_006710755.1:c.1245_1247del
(POMGNT1)
|
XP_006710818.1:p.Glu415del
|
|
|
XM_006710756.1:c.1245_1247del
(POMGNT1)
|
XP_006710819.1:p.Glu415del
|
|
|
XM_011540460.1:c.679-3641_679-3639del
(TSPAN1)
|
XP_011538762.1:n.679-3641_679-3639del
|
|
|
XM_011540461.1:c.634-3641_634-3639del
(TSPAN1)
|
XP_011538763.1:n.634-3641_634-3639del
|
|
|
XM_011541759.1:c.1179_1181del
(POMGNT1)
|
XP_011540061.1:p.Glu393del
|
|
|
XM_011541760.1:c.1179_1181del
(POMGNT1)
|
XP_011540062.1:p.Glu393del
|
|
|
XM_011541761.1:c.153_155del
(POMGNT1)
|
XP_011540063.1:p.Glu51del
|
|
|
XR_946706.1:n.1405_1407del
(POMGNT1)
|
|
|
|
XM_011540460.3:c.679-3641_679-3639del
(TSPAN1)
|
XP_011538762.1:n.679-3641_679-3639del
|
|
|
XM_011541760.3:c.1179_1181del
(POMGNT1)
|
XP_011540062.1:p.Glu393del
|
|
|
XM_017001690.1:c.1245_1247del
(POMGNT1)
|
XP_016857179.1:p.Glu415del
|
|
|
NM_001243766.2:c.1245_1247del
(POMGNT1)
|
NP_001230695.2:p.Glu415del
|
|
|
NM_001290129.2:c.1179_1181del
(POMGNT1)
|
NP_001277058.2:p.Glu393del
|
|
|
NM_001290130.2:c.816_818del
(POMGNT1)
|
NP_001277059.2:p.Glu272del
|
|
|
NM_017739.4:c.1245_1247del
(POMGNT1)
MANE Select
|
NP_060209.4:p.Glu415del
|
|
