|
ENST00000703405.1:c.2391_2392del
|
ENSP00000515291.1:p.His798Ter
|
|
|
ENST00000341462.9:c.2280+212_2280+213del
|
ENSP00000340636.7:n.2280+212_2280+213del
|
|
|
ENST00000425967.8:c.2280+212_2280+213del
|
ENSP00000393312.4:n.2280+212_2280+213del
|
|
|
ENST00000524528.2:n.3284_3285del
|
|
|
|
ENST00000682398.1:n.1631_1632del
|
|
|
|
ENST00000683132.1:n.1194_1195del
|
|
|
|
ENST00000683765.1:c.2472+212_2472+213del
|
ENSP00000507039.1:n.2472+212_2472+213del
|
|
|
ENST00000683815.1:c.2379_2380del
|
ENSP00000507997.1:p.His794Ter
|
|
|
ENST00000683948.1:n.3079_3080del
|
|
|
|
ENST00000684654.1:c.2112_2113del
|
ENSP00000507205.1:p.His705Ter
|
|
|
ENST00000447712.7:c.2391_2392del
MANE Select
|
ENSP00000400162.2:p.His798Ter
|
|
|
ENST00000649678.1:c.2379_2380del
|
ENSP00000497266.1:p.His794Ter
|
|
|
ENST00000674189.1:c.*1938+212_*1938+213del
|
ENSP00000501345.1:n.*1938+212_*1938+213del
|
|
|
ENST00000674380.1:c.*2358_*2359del
|
ENSP00000501514.1:n.*2358_*2359del
|
|
|
ENST00000674474.1:n.3885_3886del
|
|
|
|
ENST00000326324.10:c.2118_2119del
|
ENSP00000327229.6:p.His707Ter
|
|
|
ENST00000335922.9:c.2361_2362del
|
ENSP00000337247.5:p.His788Ter
|
|
|
ENST00000341462.8:c.*1441_*1442del
|
ENSP00000340636.6:n.*1441_*1442del
|
|
|
ENST00000356207.9:c.2124_2125del
|
ENSP00000348537.5:p.His709Ter
|
|
|
ENST00000397091.9:c.2385_2386del
|
ENSP00000380280.5:p.His796Ter
|
|
|
ENST00000397103.5:c.2124_2125del
|
ENSP00000380292.1:p.His709Ter
|
|
|
ENST00000397108.8:c.2385_2386del
|
ENSP00000380297.4:p.His796Ter
|
|
|
ENST00000397113.6:c.2385_2386del
|
ENSP00000380302.2:p.His796Ter
|
|
|
ENST00000425967.7:c.2484_2485del
|
ENSP00000393312.3:p.His829Ter
|
|
|
ENST00000447712.6:c.2391_2392del
|
ENSP00000400162.2:p.His798Ter
|
|
|
ENST00000526570.5:n.4670_4671del
|
|
|
|
ENST00000526688.1:n.59+212_59+213del
|
|
|
|
ENST00000531196.5:c.602_603del
|
ENSP00000434800.1:n.602_603del
|
|
|
ENST00000532791.5:c.2385_2386del
|
ENSP00000432972.1:p.His796Ter
|
|
|
ENST00000619564.3:c.*1286_*1287del
|
ENSP00000484553.1:n.*1286_*1287del
|
|
|
NM_001174063.1:c.2385_2386del
|
NP_001167534.1:p.His796Ter
|
|
|
NM_001174064.1:c.2361_2362del
|
NP_001167535.1:p.His788Ter
|
|
|
NM_001174065.1:c.2385_2386del
|
NP_001167536.1:p.His796Ter
|
|
|
NM_001174066.1:c.2124_2125del
|
NP_001167537.1:p.His709Ter
|
|
|
NM_001174067.1:c.2484_2485del
|
NP_001167538.1:p.His829Ter
|
|
|
NM_015850.3:c.2385_2386del
|
NP_056934.2:p.His796Ter
|
|
|
NM_023105.2:c.2124_2125del
|
NP_075593.1:p.His709Ter
|
|
|
NM_023106.2:c.2118_2119del
|
NP_075594.1:p.His707Ter
|
|
|
NM_023110.2:c.2391_2392del
|
NP_075598.2:p.His798Ter
|
|
|
XM_006716303.2:c.2292+212_2292+213del
|
XP_006716366.1:n.2292+212_2292+213del
|
|
|
XM_006716304.1:c.2292+212_2292+213del
|
XP_006716367.1:n.2292+212_2292+213del
|
|
|
XM_006716305.2:c.2292+212_2292+213del
|
XP_006716368.1:n.2292+212_2292+213del
|
|
|
XM_006716306.2:c.2286+212_2286+213del
|
XP_006716369.1:n.2286+212_2286+213del
|
|
|
XM_006716307.1:c.2286+212_2286+213del
|
XP_006716370.1:n.2286+212_2286+213del
|
|
|
XM_006716309.2:c.2268+212_2268+213del
|
XP_006716372.1:n.2268+212_2268+213del
|
|
|
XM_006716310.2:c.2025+212_2025+213del
|
XP_006716373.1:n.2025+212_2025+213del
|
|
|
XM_006716311.1:c.2025+212_2025+213del
|
XP_006716374.1:n.2025+212_2025+213del
|
|
|
XM_006716312.1:c.2025+212_2025+213del
|
XP_006716375.1:n.2025+212_2025+213del
|
|
|
XM_006716313.2:c.2019+212_2019+213del
|
XP_006716376.1:n.2019+212_2019+213del
|
|
|
XM_006716314.1:c.2019+212_2019+213del
|
XP_006716377.1:n.2019+212_2019+213del
|
|
|
XM_011544443.1:c.2391+212_2391+213del
|
XP_011542745.1:n.2391+212_2391+213del
|
|
|
XM_011544444.1:c.2385+212_2385+213del
|
XP_011542746.1:n.2385+212_2385+213del
|
|
|
XM_011544445.1:c.2385+212_2385+213del
|
XP_011542747.1:n.2385+212_2385+213del
|
|
|
XM_011544446.1:c.2490_2491del
|
XP_011542748.1:p.His831Ter
|
|
|
XM_011544447.1:c.2484_2485del
|
XP_011542749.1:p.His829Ter
|
|
|
XM_011544448.1:c.2124+212_2124+213del
|
XP_011542750.1:n.2124+212_2124+213del
|
|
|
XM_011544449.1:c.2118+212_2118+213del
|
XP_011542751.1:n.2118+212_2118+213del
|
|
|
XM_011544450.1:c.2217_2218del
|
XP_011542752.1:p.His740Ter
|
|
|
XM_011544451.1:c.2001+212_2001+213del
|
XP_011542753.1:n.2001+212_2001+213del
|
|
|
NM_001354367.1:c.2286+212_2286+213del
|
NP_001341296.1:n.2286+212_2286+213del
|
|
|
NM_001354368.1:c.2112_2113del
|
NP_001341297.1:p.His705Ter
|
|
|
NM_001354369.1:c.2280+212_2280+213del
|
NP_001341298.1:n.2280+212_2280+213del
|
|
|
NM_001354370.1:c.2019+212_2019+213del
|
NP_001341299.1:n.2019+212_2019+213del
|
|
|
XM_006716303.3:c.2292+212_2292+213del
|
XP_006716366.1:n.2292+212_2292+213del
|
|
|
XM_006716310.3:c.2025+212_2025+213del
|
XP_006716373.1:n.2025+212_2025+213del
|
|
|
XM_006716312.2:c.2025+212_2025+213del
|
XP_006716375.1:n.2025+212_2025+213del
|
|
|
XM_006716314.2:c.2019+212_2019+213del
|
XP_006716377.1:n.2019+212_2019+213del
|
|
|
XM_011544443.2:c.2391+212_2391+213del
|
XP_011542745.1:n.2391+212_2391+213del
|
|
|
XM_011544445.2:c.2385+212_2385+213del
|
XP_011542747.1:n.2385+212_2385+213del
|
|
|
XM_011544446.2:c.2490_2491del
|
XP_011542748.1:p.His831Ter
|
|
|
XM_011544447.2:c.2484_2485del
|
XP_011542749.1:p.His829Ter
|
|
|
XM_011544450.2:c.2217_2218del
|
XP_011542752.1:p.His740Ter
|
|
|
XM_017013219.1:c.2379+212_2379+213del
|
XP_016868708.1:n.2379+212_2379+213del
|
|
|
XM_017013220.1:c.2478_2479del
|
XP_016868709.1:p.His827Ter
|
|
|
XM_017013221.1:c.2292+212_2292+213del
|
XP_016868710.1:n.2292+212_2292+213del
|
|
|
XM_017013222.2:c.2286+212_2286+213del
|
XP_016868711.1:n.2286+212_2286+213del
|
|
|
XM_017013224.2:c.2379_2380del
|
XP_016868713.1:p.His794Ter
|
|
|
XM_017013225.2:c.2379_2380del
|
XP_016868714.1:p.His794Ter
|
|
|
XM_017013226.1:c.2217_2218del
|
XP_016868715.1:p.His740Ter
|
|
|
XM_017013227.1:c.2211_2212del
|
XP_016868716.1:p.His738Ter
|
|
|
XM_017013229.2:c.1320+212_1320+213del
|
XP_016868718.1:n.1320+212_1320+213del
|
|
|
XM_017013230.1:c.1419_1420del
|
XP_016868719.1:p.His474Ter
|
|
|
XM_024447097.1:c.2268+212_2268+213del
|
XP_024302865.1:n.2268+212_2268+213del
|
|
|
XR_001745495.1:n.2664_2665del
|
|
|
|
XR_001745496.1:n.2565+212_2565+213del
|
|
|
|
NM_001174063.2:c.2385_2386del
|
NP_001167534.1:p.His796Ter
|
|
|
NM_001174064.2:c.2361_2362del
|
NP_001167535.1:p.His788Ter
|
|
|
NM_001174065.2:c.2385_2386del
|
NP_001167536.1:p.His796Ter
|
|
|
NM_001174066.2:c.2124_2125del
|
NP_001167537.1:p.His709Ter
|
|
|
NM_001354368.2:c.2112_2113del
|
NP_001341297.1:p.His705Ter
|
|
|
NM_015850.4:c.2385_2386del
|
NP_056934.2:p.His796Ter
|
|
|
NM_023105.3:c.2124_2125del
|
NP_075593.1:p.His709Ter
|
|
|
NM_023106.3:c.2118_2119del
|
NP_075594.1:p.His707Ter
|
|
|
NM_023110.3:c.2391_2392del
MANE Select
|
NP_075598.2:p.His798Ter
|
|
|
NM_001174067.2:c.2484_2485del
|
NP_001167538.1:p.His829Ter
|
|
|
NM_001354367.2:c.2286+212_2286+213del
|
NP_001341296.1:n.2286+212_2286+213del
|
|
|
NM_001354369.2:c.2280+212_2280+213del
|
NP_001341298.1:n.2280+212_2280+213del
|
|
|
NM_001354370.2:c.2019+212_2019+213del
|
NP_001341299.1:n.2019+212_2019+213del
|
|
