ENST00000486121.7:c.*523_*532del
(GLA)
|
ENSP00000501124.2:n.*523_*532del
|
|
ENST00000674127.2:c.*580_*589del
(GLA)
|
ENSP00000501044.2:n.*580_*589del
|
|
ENST00000710365.1:c.1152_1161del
(GLA)
|
ENSP00000518234.1:p.Gly385AlafsTer28
|
|
ENST00000218516.4:c.1077_1086del
(GLA)
MANE Select
|
ENSP00000218516.4:p.Gly360AlafsTer28
|
|
ENST00000466414.2:n.1213_1222del
(GLA)
|
|
|
ENST00000468823.2:n.2499_2508del
(GLA)
|
|
|
ENST00000479445.2:n.1691_1700del
(GLA)
|
|
|
ENST00000480513.6:c.*385_*394del
(GLA)
|
ENSP00000497055.1:n.*385_*394del
|
|
ENST00000486121.6:c.1122_1131del
(GLA)
|
|
|
ENST00000649178.1:c.1200_1209del
(GLA)
|
ENSP00000498186.1:p.Gly401AlafsTer28
|
|
ENST00000674127.1:c.1177_1186del
(GLA)
|
ENSP00000501044.1:n.1177_1186del
|
|
ENST00000674142.1:n.1381_1390del
(GLA)
|
|
|
ENST00000675592.1:c.879_888del
(GLA)
|
ENSP00000502239.1:p.Gly294AlafsTer28
|
|
ENST00000675799.1:c.*602_*611del
(GLA)
|
ENSP00000502661.1:n.*602_*611del
|
|
ENST00000675968.1:n.3948_3957del
(GLA)
|
|
|
ENST00000676156.1:c.1041_1050del
(GLA)
|
ENSP00000501730.1:p.Gly348AlafsTer28
|
|
ENST00000676372.1:c.1143_1152del
(GLA)
|
ENSP00000502805.1:n.1143_1152del
|
|
ENST00000218516.3:c.1077_1086del
(GLA)
|
ENSP00000218516.3:p.Gly360AlafsTer28
|
|
ENST00000409170.3:c.300+2557_300+2566del
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2557_300+2566del
|
|
ENST00000409338.5:c.177+6192_177+6201del
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6192_177+6201del
|
|
ENST00000466414.1:n.403_412del
(GLA)
|
|
|
ENST00000493905.6:c.*465_*474del
(GLA)
|
ENSP00000476935.1:n.*465_*474del
|
|
NM_000169.2:c.1077_1086del , LRG_672t1:c.1077_1086del
(GLA)
|
NP_000160.1:p.Gly360AlafsTer28
|
|
NM_001199973.1:c.408+2557_408+2566del
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2557_408+2566del
|
|
NM_001199974.1:c.285+6192_285+6201del
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6192_285+6201del
|
|
XR_938397.1:n.1162_1171del
(GLA)
|
|
|
XR_938397.2:n.1183_1192del
(GLA)
|
|
|
NM_001199973.2:c.300+2557_300+2566del
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2557_300+2566del
|
|
NM_001199974.2:c.177+6192_177+6201del
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6192_177+6201del
|
|
NM_000169.3:c.1077_1086del
(GLA)
MANE Select
|
NP_000160.1:p.Gly360AlafsTer28
|
|
NR_164783.1:n.1156_1165del
(GLA)
|
|
|