|
ENST00000452508.7:c.8751C>T
(ATM)
|
ENSP00000388058.2:p.Gly2917=
|
|
|
ENST00000713593.1:c.*8222C>T
(ATM)
|
ENSP00000518889.1:n.*8222C>T
|
|
|
ENST00000278616.9:c.8751C>T
(ATM)
|
ENSP00000278616.4:p.Gly2917=
|
|
|
ENST00000638786.2:n.1449C>T
(ATM)
|
|
|
|
ENST00000682286.1:n.3508C>T
(ATM)
|
|
|
|
ENST00000682302.1:n.3169C>T
(ATM)
|
|
|
|
ENST00000683174.1:n.10235C>T
(ATM)
|
|
|
|
ENST00000683524.1:n.3975C>T
(ATM)
|
|
|
|
ENST00000684152.1:n.4167C>T
(ATM)
|
|
|
|
ENST00000684180.1:n.1225C>T
(ATM)
|
|
|
|
ENST00000684447.1:n.5244C>T
(ATM)
|
|
|
|
ENST00000527805.6:c.*3815C>T
(ATM)
|
ENSP00000435747.2:n.*3815C>T
|
|
|
ENST00000675595.1:c.*3886C>T
(ATM)
|
ENSP00000502563.1:n.*3886C>T
|
|
|
ENST00000675843.1:c.8751C>T
(ATM)
MANE Select
|
ENSP00000501606.1:p.Gly2917=
|
|
|
ENST00000278616.8:c.8751C>T
(ATM)
|
ENSP00000278616.4:p.Gly2917=
|
|
|
ENST00000452508.6:c.8751C>T
(ATM)
|
ENSP00000388058.2:p.Gly2917=
|
|
|
ENST00000524755.5:c.227-18553G>A
(C11orf65)
|
|
|
|
ENST00000524792.5:n.4966C>T
(ATM)
|
|
|
|
ENST00000525178.5:n.239C>T
(ATM)
|
|
|
|
ENST00000525729.5:c.640+32075G>A
(C11orf65)
|
ENSP00000433395.1:n.640+32075G>A
|
|
|
ENST00000526725.1:n.272-13481G>A
(C11orf65)
|
|
|
|
ENST00000527181.1:n.90C>T
(ATM)
|
|
|
|
ENST00000527531.5:c.*1196+1070G>A
(C11orf65)
|
ENSP00000431706.1:n.*1196+1070G>A
|
|
|
ENST00000615746.4:c.*1196+1070G>A
(C11orf65)
|
ENSP00000483537.1:n.*1196+1070G>A
|
|
|
NM_000051.3:c.8751C>T , LRG_135t1:c.8751C>T
(ATM)
|
NP_000042.3:p.Gly2917=
|
|
|
XM_005271414.3:c.788-18553G>A
(C11orf65)
|
XP_005271471.1:n.788-18553G>A
|
|
|
XM_005271415.3:c.732-18553G>A
(C11orf65)
|
XP_005271472.1:n.732-18553G>A
|
|
|
XM_005271561.3:c.8751C>T
(ATM)
|
XP_005271618.2:p.Gly2917=
|
|
|
XM_005271562.3:c.8751C>T
(ATM)
|
XP_005271619.2:p.Gly2917=
|
|
|
XM_006718843.2:c.8751C>T
(ATM)
|
XP_006718906.1:p.Gly2917=
|
|
|
XM_006718845.1:c.4707C>T
(ATM)
|
XP_006718908.1:p.Gly1569=
|
|
|
XM_011542640.1:c.788-13481G>A
(C11orf65)
|
XP_011540942.1:n.788-13481G>A
|
|
|
XM_011542642.1:c.732-4772G>A
(C11orf65)
|
XP_011540944.1:n.732-4772G>A
|
|
|
XM_011542643.1:c.732-13481G>A
(C11orf65)
|
XP_011540945.1:n.732-13481G>A
|
|
|
XM_011542840.1:c.8751C>T
(ATM)
|
XP_011541142.1:p.Gly2917=
|
|
|
XM_011542841.1:c.8751C>T
(ATM)
|
XP_011541143.1:p.Gly2917=
|
|
|
XM_011542842.1:c.8586C>T
(ATM)
|
XP_011541144.1:p.Gly2862=
|
|
|
XM_011542844.1:c.7707C>T
(ATM)
|
XP_011541146.1:p.Gly2569=
|
|
|
XM_011542845.1:c.7443C>T
(ATM)
|
XP_011541147.1:p.Gly2481=
|
|
|
XM_011542847.1:c.3822C>T
(ATM)
|
XP_011541149.1:p.Gly1274=
|
|
|
NM_001330368.1:c.640+32075G>A
(C11orf65)
|
NP_001317297.1:n.640+32075G>A
|
|
|
NM_001351110.1:c.695-18553G>A
(C11orf65)
|
NP_001338039.1:n.695-18553G>A
|
|
|
NM_001351834.1:c.8751C>T
(ATM)
|
NP_001338763.1:p.Gly2917=
|
|
|
NR_147053.2:n.2301+1070G>A
(C11orf65)
|
|
|
|
XM_005271414.4:c.788-18553G>A
(C11orf65)
|
XP_005271471.1:n.788-18553G>A
|
|
|
XM_005271415.4:c.732-18553G>A
(C11orf65)
|
XP_005271472.1:n.732-18553G>A
|
|
|
XM_005271562.5:c.8751C>T
(ATM)
|
XP_005271619.2:p.Gly2917=
|
|
|
XM_006718843.4:c.8751C>T
(ATM)
|
XP_006718906.1:p.Gly2917=
|
|
|
XM_006718845.2:c.4707C>T
(ATM)
|
XP_006718908.1:p.Gly1569=
|
|
|
XM_011542640.2:c.788-13481G>A
(C11orf65)
|
XP_011540942.1:n.788-13481G>A
|
|
|
XM_011542643.2:c.732-13481G>A
(C11orf65)
|
XP_011540945.1:n.732-13481G>A
|
|
|
XM_011542840.3:c.8751C>T
(ATM)
|
XP_011541142.1:p.Gly2917=
|
|
|
XM_011542842.3:c.8586C>T
(ATM)
|
XP_011541144.1:p.Gly2862=
|
|
|
XM_011542844.3:c.7707C>T
(ATM)
|
XP_011541146.1:p.Gly2569=
|
|
|
XM_011542845.2:c.7443C>T
(ATM)
|
XP_011541147.1:p.Gly2481=
|
|
|
XM_017017247.1:c.904-13481G>A
(C11orf65)
|
XP_016872736.1:n.904-13481G>A
|
|
|
XM_017017789.2:c.8751C>T
(ATM)
|
XP_016873278.1:p.Gly2917=
|
|
|
XM_017017790.2:c.8751C>T
(ATM)
|
XP_016873279.1:p.Gly2917=
|
|
|
NM_001330368.2:c.640+32075G>A
(C11orf65)
|
NP_001317297.1:n.640+32075G>A
|
|
|
NM_001351110.2:c.695-18553G>A
(C11orf65)
|
NP_001338039.1:n.695-18553G>A
|
|
|
NM_001351834.2:c.8751C>T
(ATM)
|
NP_001338763.1:p.Gly2917=
|
|
|
NM_000051.4:c.8751C>T
(ATM)
MANE Select
|
NP_000042.3:p.Gly2917=
|
|
|
NR_147053.3:n.2299+1070G>A
(C11orf65)
|
|
|
