|
ENST00000486121.7:c.*474del
(GLA)
|
ENSP00000501124.2:n.*474del
|
|
|
ENST00000674127.2:c.*531del
(GLA)
|
ENSP00000501044.2:n.*531del
|
|
|
ENST00000710365.1:c.1103del
(GLA)
|
ENSP00000518234.1:p.Pro368LeufsTer5
|
|
|
ENST00000218516.4:c.1028del
(GLA)
MANE Select
|
ENSP00000218516.4:p.Pro343LeufsTer5
|
|
|
ENST00000466414.2:n.1164del
(GLA)
|
|
|
|
ENST00000468823.2:n.2450del
(GLA)
|
|
|
|
ENST00000479445.2:n.1642del
(GLA)
|
|
|
|
ENST00000480513.6:c.*336del
(GLA)
|
ENSP00000497055.1:n.*336del
|
|
|
ENST00000486121.6:c.1073del
(GLA)
|
|
|
|
ENST00000649178.1:c.1151del
(GLA)
|
ENSP00000498186.1:p.Pro384LeufsTer5
|
|
|
ENST00000674127.1:c.1128del
(GLA)
|
ENSP00000501044.1:n.1128del
|
|
|
ENST00000674142.1:n.1332del
(GLA)
|
|
|
|
ENST00000675592.1:c.830del
(GLA)
|
ENSP00000502239.1:p.Pro277LeufsTer5
|
|
|
ENST00000675799.1:c.*553del
(GLA)
|
ENSP00000502661.1:n.*553del
|
|
|
ENST00000675968.1:n.3899del
(GLA)
|
|
|
|
ENST00000676156.1:c.992del
(GLA)
|
ENSP00000501730.1:p.Pro331LeufsTer5
|
|
|
ENST00000676372.1:c.1094del
(GLA)
|
ENSP00000502805.1:n.1094del
|
|
|
ENST00000218516.3:c.1028del
(GLA)
|
ENSP00000218516.3:p.Pro343LeufsTer5
|
|
|
ENST00000409170.3:c.300+2615del
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2615del
|
|
|
ENST00000409338.5:c.177+6250del
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6250del
|
|
|
ENST00000466414.1:n.354del
(GLA)
|
|
|
|
ENST00000493905.6:c.*416del
(GLA)
|
ENSP00000476935.1:n.*416del
|
|
|
NM_000169.2:c.1028del , LRG_672t1:c.1028del
(GLA)
|
NP_000160.1:p.Pro343LeufsTer5
|
|
|
NM_001199973.1:c.408+2615del
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2615del
|
|
|
NM_001199974.1:c.285+6250del
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6250del
|
|
|
XR_938397.1:n.1113del
(GLA)
|
|
|
|
XR_938397.2:n.1134del
(GLA)
|
|
|
|
NM_001199973.2:c.300+2615del
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2615del
|
|
|
NM_001199974.2:c.177+6250del
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6250del
|
|
|
NM_000169.3:c.1028del
(GLA)
MANE Select
|
NP_000160.1:p.Pro343LeufsTer5
|
|
|
NR_164783.1:n.1107del
(GLA)
|
|
|
