|
NM_031885.5:c.1725del
MANE Select
|
NP_114091.4:p.Phe575LeufsTer8
|
|
ENST00000245157.11:c.1725del
MANE Select
|
ENSP00000245157.5:p.Phe575LeufsTer8
|
|
NM_001377456.1:c.1725del
|
NP_001364385.1:p.Phe575LeufsTer8
|
|
NM_031885.3:c.1725del
|
NP_114091.3:p.Phe575LeufsTer8
|
|
NM_031885.4:c.1725del
|
NP_114091.3:p.Phe575LeufsTer8
|
|
NR_165293.1:n.2015del
|
|
|
NR_165294.1:n.2012del
|
|
|
NR_165295.1:n.1843del
|
|
|
NR_165296.1:n.1715del
|
|
|
NR_165297.1:n.1715del
|
|
|
ENST00000245157.9:c.1725del
|
ENSP00000245157.5:p.Phe575LeufsTer8
|
|
ENST00000561877.1:c.549del
|
|
|
ENST00000561877.2:c.1712del
|
ENSP00000454986.2:n.1712del
|
|
ENST00000562813.1:n.2549del
|
|
|
ENST00000562813.2:n.2549del
|
|
|
ENST00000564459.6:n.452del
|
|
|
ENST00000565781.5:n.5256del
|
|
|
ENST00000565781.6:n.5256del
|
|
|
ENST00000565859.2:n.2799del
|
|
|
ENST00000566210.2:n.2154del
|
|
|
ENST00000566410.2:n.5239del
|
|
|
ENST00000566452.2:n.2185del
|
|
|
ENST00000566495.1:n.694del
|
|
|
ENST00000566495.2:n.694del
|
|
|
ENST00000568104.5:c.1659+622del
|
ENSP00000456289.1:n.1659+622del
|
|
ENST00000568104.6:c.1659+622del
|
ENSP00000456289.1:n.1659+622del
|
|
ENST00000569192.5:n.399del
|
|
|
ENST00000569192.6:n.830del
|
|
|
ENST00000618027.2:n.504del
|
|
|
ENST00000682000.1:n.1283del
|
|
|
ENST00000682001.1:n.2754del
|
|
|
ENST00000682005.1:n.1716del
|
|
|
ENST00000682038.1:c.*1114del
|
ENSP00000508404.1:n.*1114del
|
|
ENST00000682047.1:c.1725del
|
ENSP00000507699.1:p.Phe575LeufsTer8
|
|
ENST00000682088.1:c.*4666del
|
ENSP00000508064.1:n.*4666del
|
|
ENST00000682096.1:n.4175del
|
|
|
ENST00000682113.1:n.3942del
|
|
|
ENST00000682146.1:n.2882del
|
|
|
ENST00000682187.1:c.*1149del
|
ENSP00000507203.1:n.*1149del
|
|
ENST00000682188.1:c.1725del
|
ENSP00000507655.1:p.Phe575LeufsTer8
|
|
ENST00000682201.1:n.1716del
|
|
|
ENST00000682205.1:c.1725del
|
ENSP00000508377.1:p.Phe575LeufsTer8
|
|
ENST00000682348.1:c.*774del
|
ENSP00000506965.1:n.*774del
|
|
ENST00000682360.1:c.1128del
|
ENSP00000508007.1:p.Phe376LeufsTer8
|
|
ENST00000682370.1:n.3091del
|
|
|
ENST00000682420.1:n.2272del
|
|
|
ENST00000682429.1:c.*394del
|
ENSP00000506827.1:n.*394del
|
|
ENST00000682449.1:c.*476del
|
ENSP00000507836.1:n.*476del
|
|
ENST00000682470.1:c.1725del
|
ENSP00000507654.1:p.Phe575LeufsTer8
|
|
ENST00000682473.1:n.1690del
|
|
|
ENST00000682482.1:c.1599del
|
ENSP00000507903.1:p.Phe533LeufsTer8
|
|
ENST00000682492.1:n.1813del
|
|
|
ENST00000682493.1:c.*320del
|
ENSP00000506778.1:n.*320del
|
|
ENST00000682543.1:c.*1149del
|
ENSP00000507592.1:n.*1149del
|
|
ENST00000682597.1:n.3912del
|
|
|
ENST00000682623.1:n.326del
|
|
|
ENST00000682658.1:c.*757del
|
ENSP00000507773.1:n.*757del
|
|
ENST00000682705.1:n.2794del
|
|
|
ENST00000682723.1:c.1128del
|
ENSP00000507115.1:p.Phe376LeufsTer8
|
|
ENST00000682735.1:c.*3393del
|
ENSP00000507007.1:n.*3393del
|
|
ENST00000682737.1:c.1128del
|
ENSP00000506876.1:p.Phe376LeufsTer8
|
|
ENST00000682757.1:n.3418del
|
|
|
ENST00000682855.1:c.1725del
|
ENSP00000507027.1:p.Phe575LeufsTer8
|
|
ENST00000682875.1:c.1725del
|
ENSP00000507771.1:p.Phe575LeufsTer8
|
|
ENST00000682930.1:c.1650del
|
ENSP00000507981.1:p.Phe550LeufsTer8
|
|
ENST00000682948.1:n.2757del
|
|
|
ENST00000682960.1:n.3966del
|
|
|
ENST00000683008.1:n.5121del
|
|
|
ENST00000683020.1:c.*266del
|
ENSP00000507944.1:n.*266del
|
|
ENST00000683099.1:n.3091del
|
|
|
ENST00000683170.1:n.3450del
|
|
|
ENST00000683212.1:c.*266del
|
ENSP00000507839.1:n.*266del
|
|
ENST00000683248.1:n.3683del
|
|
|
ENST00000683343.1:n.2579del
|
|
|
ENST00000683347.1:n.1932del
|
|
|
ENST00000683384.1:c.1746del
|
ENSP00000508330.1:n.1746del
|
|
ENST00000683396.1:n.4502del
|
|
|
ENST00000683410.1:n.2147del
|
|
|
ENST00000683443.1:n.1359del
|
|
|
ENST00000683485.1:n.4293del
|
|
|
ENST00000683504.1:n.7316del
|
|
|
ENST00000683533.1:c.*1149del
|
ENSP00000508296.1:n.*1149del
|
|
ENST00000683609.1:n.3794del
|
|
|
ENST00000683644.1:c.*899del
|
ENSP00000507914.1:n.*899del
|
|
ENST00000683660.1:n.1938del
|
|
|
ENST00000683669.1:n.1608del
|
|
|
ENST00000683690.1:c.*3177del
|
ENSP00000508152.1:n.*3177del
|
|
ENST00000683719.1:n.1708del
|
|
|
ENST00000683757.1:n.1714del
|
|
|
ENST00000683858.1:c.1677del
|
ENSP00000507657.1:p.Phe559LeufsTer8
|
|
ENST00000683875.1:c.1497del
|
ENSP00000507602.1:p.Phe499LeufsTer8
|
|
ENST00000683904.1:n.4030del
|
|
|
ENST00000683910.1:n.4420del
|
|
|
ENST00000683959.1:c.*774del
|
ENSP00000508309.1:n.*774del
|
|
ENST00000683976.1:c.*1274del
|
ENSP00000507183.1:n.*1274del
|
|
ENST00000683978.1:n.1868del
|
|
|
ENST00000683992.1:c.*1365del
|
ENSP00000508144.1:n.*1365del
|
|
ENST00000684020.1:n.2147del
|
|
|
ENST00000684044.1:n.2713del
|
|
|
ENST00000684057.1:n.2643del
|
|
|
ENST00000684076.1:n.3105del
|
|
|
ENST00000684128.1:n.3293del
|
|
|
ENST00000684194.1:n.3356del
|
|
|
ENST00000684205.1:n.3404del
|
|
|
ENST00000684246.1:c.*1365del
|
ENSP00000508273.1:n.*1365del
|
|
ENST00000684388.1:c.645del
|
ENSP00000507647.1:p.Phe215LeufsTer8
|
|
ENST00000684402.1:n.2966del
|
|
|
ENST00000684446.1:n.3209del
|
|
|
ENST00000684531.1:n.3167del
|
|
|
ENST00000684635.1:c.1620del
|
ENSP00000507335.1:p.Phe540LeufsTer8
|
|
ENST00000684640.1:c.1687del
|
ENSP00000507292.1:n.1687del
|
|
ENST00000684673.1:c.*320del
|
ENSP00000507746.1:n.*320del
|
|
ENST00000684684.1:c.*977del
|
ENSP00000507026.1:n.*977del
|
|
XM_005256080.1:c.1725del
|
XP_005256137.1:p.Phe575LeufsTer8
|
|
XM_005256080.2:c.1725del
|
XP_005256137.1:p.Phe575LeufsTer8
|
|
XR_001751958.1:n.2086del
|
|
|
XR_001751959.2:n.2083del
|
|
|
XR_001751960.1:n.1786del
|
|
|
XR_001751961.1:n.1786del
|
|
|
XR_933378.1:n.1786del
|
|
|
XR_933380.2:n.1914del
|
|
