|
NM_006493.4:c.400G>T
(CLN5)
MANE Select
|
NP_006484.2:p.Glu134Ter
|
|
ENST00000377453.9:c.400G>T
(CLN5)
MANE Select
|
ENSP00000366673.5:p.Glu134Ter
|
|
NM_001366624.1:c.400G>T
(CLN5)
|
NP_001353553.1:p.Glu134Ter
|
|
NM_001366624.2:c.400G>T
(CLN5)
|
NP_001353553.1:p.Glu134Ter
|
|
NM_006493.2:c.547G>T , LRG_692t1:c.547G>T
(CLN5)
|
NP_006484.1:p.Glu183Ter
|
|
NM_006493.3:c.400G>T
(CLN5)
|
NP_006484.2:p.Glu134Ter
|
|
ENST00000377453.7:c.547G>T
(CLN5)
|
ENSP00000366673.3:p.Glu183Ter
|
|
ENST00000485797.2:n.174-3011C>A
(FBXL3)
|
|
|
ENST00000485938.2:c.383G>T
(CLN5)
|
|
|
ENST00000485938.4:c.400G>T
(CLN5)
|
ENSP00000482959.3:p.Glu134Ter
|
|
ENST00000616833.4:c.400G>T
(CLN5)
|
ENSP00000479547.1:p.Glu134Ter
|
|
ENST00000616833.6:c.400G>T
(CLN5)
|
ENSP00000479547.3:p.Glu134Ter
|
|
ENST00000635838.1:c.9G>T
|
|
|
ENST00000635905.1:n.401G>T
(CLN5)
|
|
|
ENST00000635915.1:c.398G>T
(CLN5)
|
|
|
ENST00000635989.1:n.467G>T
(CLN5)
|
|
|
ENST00000636183.2:c.400G>T
(CLN5)
|
ENSP00000490181.2:p.Glu134Ter
|
|
ENST00000636520.1:n.1912G>T
(CLN5)
|
|
|
ENST00000636525.2:c.400G>T
(CLN5)
|
ENSP00000490078.2:p.Glu134Ter
|
|
ENST00000636602.1:n.346G>T
(CLN5)
|
|
|
ENST00000636681.1:c.*91G>T
(CLN5)
|
ENSP00000489922.1:n.*91G>T
|
|
ENST00000636705.1:c.236G>T
(CLN5)
|
|
|
ENST00000636767.2:c.400G>T
(CLN5)
|
ENSP00000489855.2:p.Glu134Ter
|
|
ENST00000636780.2:c.400G>T
(CLN5)
|
ENSP00000489809.2:p.Glu134Ter
|
|
ENST00000637192.1:c.48G>T
|
|
|
ENST00000637278.1:n.726G>T
(CLN5)
|
|
|
ENST00000637397.2:c.400G>T
(CLN5)
|
ENSP00000490422.2:p.Glu134Ter
|
|
ENST00000637537.2:c.400G>T
(CLN5)
|
ENSP00000489711.2:p.Glu134Ter
|
|
ENST00000638101.1:c.4G>T
|
ENSP00000490535.1:p.Glu2Ter
|
|
ENST00000638147.2:c.400G>T
|
ENSP00000490953.2:p.Glu134Ter
|
|
XM_011534917.1:c.547G>T
(CLN5)
|
XP_011533219.1:p.Glu183Ter
|
|
XM_017020538.2:c.644-3011C>A
(FBXL3)
|
XP_016876027.1:n.644-3011C>A
|
