|
ENST00000703405.1:c.2012_2018del
|
ENSP00000515291.1:p.Ala671ValfsTer?
|
|
|
ENST00000341462.9:c.2000_2006del
|
ENSP00000340636.7:p.Ala667ValfsTer?
|
|
|
ENST00000425967.8:c.2000_2006del
|
ENSP00000393312.4:p.Ala667ValfsTer?
|
|
|
ENST00000524528.2:n.2905_2911del
|
|
|
|
ENST00000682398.1:n.983_989del
|
|
|
|
ENST00000683132.1:n.702_708del
|
|
|
|
ENST00000683765.1:c.2192_2198del
|
ENSP00000507039.1:p.Ala731ValfsTer?
|
|
|
ENST00000683815.1:c.2000_2006del
|
ENSP00000507997.1:p.Ala667ValfsTer?
|
|
|
ENST00000683948.1:n.2700_2706del
|
|
|
|
ENST00000684654.1:c.1733_1739del
|
ENSP00000507205.1:p.Ala578ValfsTer?
|
|
|
ENST00000447712.7:c.2012_2018del
MANE Select
|
ENSP00000400162.2:p.Ala671ValfsTer?
|
|
|
ENST00000649678.1:c.2000_2006del
|
ENSP00000497266.1:p.Ala667ValfsTer?
|
|
|
ENST00000674189.1:c.*1658_*1664del
|
ENSP00000501345.1:n.*1658_*1664del
|
|
|
ENST00000674380.1:c.*1979_*1985del
|
ENSP00000501514.1:n.*1979_*1985del
|
|
|
ENST00000674474.1:n.3506_3512del
|
|
|
|
ENST00000326324.10:c.1739_1745del
|
ENSP00000327229.6:p.Ala580ValfsTer?
|
|
|
ENST00000335922.9:c.1982_1988del
|
ENSP00000337247.5:p.Ala661ValfsTer?
|
|
|
ENST00000341462.8:c.*1062_*1068del
|
ENSP00000340636.6:n.*1062_*1068del
|
|
|
ENST00000356207.9:c.1745_1751del
|
ENSP00000348537.5:p.Ala582ValfsTer?
|
|
|
ENST00000397091.9:c.2006_2012del
|
ENSP00000380280.5:p.Ala669ValfsTer?
|
|
|
ENST00000397103.5:c.1745_1751del
|
ENSP00000380292.1:p.Ala582ValfsTer?
|
|
|
ENST00000397108.8:c.2006_2012del
|
ENSP00000380297.4:p.Ala669ValfsTer?
|
|
|
ENST00000397113.6:c.2006_2012del
|
ENSP00000380302.2:p.Ala669ValfsTer?
|
|
|
ENST00000425967.7:c.2105_2111del
|
ENSP00000393312.3:p.Ala702ValfsTer?
|
|
|
ENST00000447712.6:c.2012_2018del
|
ENSP00000400162.2:p.Ala671ValfsTer?
|
|
|
ENST00000526570.5:n.4291_4297del
|
|
|
|
ENST00000531196.5:c.212_218del
|
ENSP00000434800.1:p.Ala71ValfsTer?
|
|
|
ENST00000532791.5:c.2006_2012del
|
ENSP00000432972.1:p.Ala669ValfsTer?
|
|
|
ENST00000619564.3:c.*907_*913del
|
ENSP00000484553.1:n.*907_*913del
|
|
|
NM_001174063.1:c.2006_2012del
|
NP_001167534.1:p.Ala669ValfsTer?
|
|
|
NM_001174064.1:c.1982_1988del
|
NP_001167535.1:p.Ala661ValfsTer?
|
|
|
NM_001174065.1:c.2006_2012del
|
NP_001167536.1:p.Ala669ValfsTer?
|
|
|
NM_001174066.1:c.1745_1751del
|
NP_001167537.1:p.Ala582ValfsTer?
|
|
|
NM_001174067.1:c.2105_2111del
|
NP_001167538.1:p.Ala702ValfsTer?
|
|
|
NM_015850.3:c.2006_2012del
|
NP_056934.2:p.Ala669ValfsTer?
|
|
|
NM_023105.2:c.1745_1751del
|
NP_075593.1:p.Ala582ValfsTer?
|
|
|
NM_023106.2:c.1739_1745del
|
NP_075594.1:p.Ala580ValfsTer?
|
|
|
NM_023110.2:c.2012_2018del
|
NP_075598.2:p.Ala671ValfsTer?
|
|
|
XM_006716303.2:c.2012_2018del
|
XP_006716366.1:p.Ala671ValfsTer?
|
|
|
XM_006716304.1:c.2012_2018del
|
XP_006716367.1:p.Ala671ValfsTer?
|
|
|
XM_006716305.2:c.2012_2018del
|
XP_006716368.1:p.Ala671ValfsTer?
|
|
|
XM_006716306.2:c.2006_2012del
|
XP_006716369.1:p.Ala669ValfsTer?
|
|
|
XM_006716307.1:c.2006_2012del
|
XP_006716370.1:p.Ala669ValfsTer?
|
|
|
XM_006716309.2:c.1988_1994del
|
XP_006716372.1:p.Ala663ValfsTer?
|
|
|
XM_006716310.2:c.1745_1751del
|
XP_006716373.1:p.Ala582ValfsTer?
|
|
|
XM_006716311.1:c.1745_1751del
|
XP_006716374.1:p.Ala582ValfsTer?
|
|
|
XM_006716312.1:c.1745_1751del
|
XP_006716375.1:p.Ala582ValfsTer?
|
|
|
XM_006716313.2:c.1739_1745del
|
XP_006716376.1:p.Ala580ValfsTer?
|
|
|
XM_006716314.1:c.1739_1745del
|
XP_006716377.1:p.Ala580ValfsTer?
|
|
|
XM_011544443.1:c.2111_2117del
|
XP_011542745.1:p.Ala704ValfsTer?
|
|
|
XM_011544444.1:c.2105_2111del
|
XP_011542746.1:p.Ala702ValfsTer?
|
|
|
XM_011544445.1:c.2105_2111del
|
XP_011542747.1:p.Ala702ValfsTer?
|
|
|
XM_011544446.1:c.2111_2117del
|
XP_011542748.1:p.Ala704ValfsTer?
|
|
|
XM_011544447.1:c.2105_2111del
|
XP_011542749.1:p.Ala702ValfsTer?
|
|
|
XM_011544448.1:c.1844_1850del
|
XP_011542750.1:p.Ala615ValfsTer?
|
|
|
XM_011544449.1:c.1838_1844del
|
XP_011542751.1:p.Ala613ValfsTer?
|
|
|
XM_011544450.1:c.1838_1844del
|
XP_011542752.1:p.Ala613ValfsTer?
|
|
|
XM_011544451.1:c.1721_1727del
|
XP_011542753.1:p.Ala574ValfsTer?
|
|
|
NM_001354367.1:c.2006_2012del
|
NP_001341296.1:p.Ala669ValfsTer?
|
|
|
NM_001354368.1:c.1733_1739del
|
NP_001341297.1:p.Ala578ValfsTer?
|
|
|
NM_001354369.1:c.2000_2006del
|
NP_001341298.1:p.Ala667ValfsTer?
|
|
|
NM_001354370.1:c.1739_1745del
|
NP_001341299.1:p.Ala580ValfsTer?
|
|
|
XM_006716303.3:c.2012_2018del
|
XP_006716366.1:p.Ala671ValfsTer?
|
|
|
XM_006716310.3:c.1745_1751del
|
XP_006716373.1:p.Ala582ValfsTer?
|
|
|
XM_006716312.2:c.1745_1751del
|
XP_006716375.1:p.Ala582ValfsTer?
|
|
|
XM_006716314.2:c.1739_1745del
|
XP_006716377.1:p.Ala580ValfsTer?
|
|
|
XM_011544443.2:c.2111_2117del
|
XP_011542745.1:p.Ala704ValfsTer?
|
|
|
XM_011544445.2:c.2105_2111del
|
XP_011542747.1:p.Ala702ValfsTer?
|
|
|
XM_011544446.2:c.2111_2117del
|
XP_011542748.1:p.Ala704ValfsTer?
|
|
|
XM_011544447.2:c.2105_2111del
|
XP_011542749.1:p.Ala702ValfsTer?
|
|
|
XM_011544450.2:c.1838_1844del
|
XP_011542752.1:p.Ala613ValfsTer?
|
|
|
XM_017013219.1:c.2099_2105del
|
XP_016868708.1:p.Ala700ValfsTer?
|
|
|
XM_017013220.1:c.2099_2105del
|
XP_016868709.1:p.Ala700ValfsTer?
|
|
|
XM_017013221.1:c.2012_2018del
|
XP_016868710.1:p.Ala671ValfsTer?
|
|
|
XM_017013222.2:c.2006_2012del
|
XP_016868711.1:p.Ala669ValfsTer?
|
|
|
XM_017013224.2:c.2000_2006del
|
XP_016868713.1:p.Ala667ValfsTer?
|
|
|
XM_017013225.2:c.2000_2006del
|
XP_016868714.1:p.Ala667ValfsTer?
|
|
|
XM_017013226.1:c.1838_1844del
|
XP_016868715.1:p.Ala613ValfsTer?
|
|
|
XM_017013227.1:c.1832_1838del
|
XP_016868716.1:p.Ala611ValfsTer?
|
|
|
XM_017013229.2:c.1040_1046del
|
XP_016868718.1:p.Ala347ValfsTer?
|
|
|
XM_017013230.1:c.1040_1046del
|
XP_016868719.1:p.Ala347ValfsTer?
|
|
|
XM_024447097.1:c.1988_1994del
|
XP_024302865.1:p.Ala663ValfsTer?
|
|
|
XR_001745495.1:n.2285_2291del
|
|
|
|
XR_001745496.1:n.2285_2291del
|
|
|
|
NM_001174063.2:c.2006_2012del
|
NP_001167534.1:p.Ala669ValfsTer?
|
|
|
NM_001174064.2:c.1982_1988del
|
NP_001167535.1:p.Ala661ValfsTer?
|
|
|
NM_001174065.2:c.2006_2012del
|
NP_001167536.1:p.Ala669ValfsTer?
|
|
|
NM_001174066.2:c.1745_1751del
|
NP_001167537.1:p.Ala582ValfsTer?
|
|
|
NM_001354368.2:c.1733_1739del
|
NP_001341297.1:p.Ala578ValfsTer?
|
|
|
NM_015850.4:c.2006_2012del
|
NP_056934.2:p.Ala669ValfsTer?
|
|
|
NM_023105.3:c.1745_1751del
|
NP_075593.1:p.Ala582ValfsTer?
|
|
|
NM_023106.3:c.1739_1745del
|
NP_075594.1:p.Ala580ValfsTer?
|
|
|
NM_023110.3:c.2012_2018del
MANE Select
|
NP_075598.2:p.Ala671ValfsTer?
|
|
|
NM_001174067.2:c.2105_2111del
|
NP_001167538.1:p.Ala702ValfsTer?
|
|
|
NM_001354367.2:c.2006_2012del
|
NP_001341296.1:p.Ala669ValfsTer?
|
|
|
NM_001354369.2:c.2000_2006del
|
NP_001341298.1:p.Ala667ValfsTer?
|
|
|
NM_001354370.2:c.1739_1745del
|
NP_001341299.1:p.Ala580ValfsTer?
|
|
