|
ENST00000341012.13:c.1757_1761delinsTCCTC
|
ENSP00000343034.7:p.Phe586=
|
|
|
ENST00000404875.7:n.2459_2463delinsTCCTC
|
|
|
|
ENST00000423007.6:c.1976_1980delinsTCCTC
|
ENSP00000404119.2:p.Phe659=
|
|
|
ENST00000677295.2:c.*2263_*2267delinsTCCTC
|
ENSP00000504346.2:n.*2263_*2267delinsTCCTC
|
|
|
ENST00000678264.2:c.*2102_*2106delinsTCCTC
|
ENSP00000503157.2:n.*2102_*2106delinsTCCTC
|
|
|
ENST00000682070.1:n.2291-62_2291-58delinsTCCTC
|
|
|
|
ENST00000682813.1:n.2323_2327delinsTCCTC
|
|
|
|
ENST00000683392.1:n.4573-62_4573-58delinsTCCTC
|
|
|
|
ENST00000683712.1:n.2324_2328delinsTCCTC
|
|
|
|
ENST00000683900.1:n.3819_3823delinsTCCTC
|
|
|
|
ENST00000684062.1:n.2585_2589delinsTCCTC
|
|
|
|
ENST00000684579.1:n.3765_3769delinsTCCTC
|
|
|
|
ENST00000684679.1:n.1146_1150delinsTCCTC
|
|
|
|
ENST00000341012.12:c.1757_1761delinsTCCTC
|
ENSP00000343034.7:p.Phe586=
|
|
|
ENST00000372220.5:c.788_792delinsTCCTC
|
ENSP00000361294.5:p.Phe263=
|
|
|
ENST00000372228.9:c.1985_1989delinsTCCTC
|
ENSP00000361302.3:p.Phe662=
|
|
|
ENST00000402686.8:c.1919_1923delinsTCCTC
MANE Select
|
ENSP00000385797.4:p.Phe640=
|
|
|
ENST00000676640.1:c.1919_1923delinsTCCTC
|
ENSP00000503281.1:p.Phe640=
|
|
|
ENST00000676803.1:c.980_984delinsTCCTC
|
ENSP00000503093.1:p.Phe327=
|
|
|
ENST00000676835.1:c.*1134_*1138delinsTCCTC
|
ENSP00000502911.1:n.*1134_*1138delinsTCCTC
|
|
|
ENST00000677029.1:c.1463_1467delinsTCCTC
|
ENSP00000502936.1:p.Phe488=
|
|
|
ENST00000677099.1:c.*1629_*1633delinsTCCTC
|
ENSP00000504553.1:n.*1629_*1633delinsTCCTC
|
|
|
ENST00000677216.1:c.1568_1572delinsTCCTC
|
ENSP00000503772.1:p.Phe523=
|
|
|
ENST00000677221.1:n.944_948delinsTCCTC
|
|
|
|
ENST00000677295.1:c.*1203-62_*1203-58delinsTCCTC
|
ENSP00000504346.1:n.*1203-62_*1203-58delinsTCCTC
|
|
|
ENST00000677444.1:c.1864_1868delinsTCCTC
|
|
|
|
ENST00000677586.1:n.1286_1290delinsTCCTC
|
|
|
|
ENST00000677626.1:c.1568_1572delinsTCCTC
|
ENSP00000503552.1:p.Phe523=
|
|
|
ENST00000677853.1:c.*927_*931delinsTCCTC
|
ENSP00000503488.1:n.*927_*931delinsTCCTC
|
|
|
ENST00000678202.1:n.1078_1082delinsTCCTC
|
|
|
|
ENST00000678264.1:c.*1296_*1300delinsTCCTC
|
ENSP00000503157.1:n.*1296_*1300delinsTCCTC
|
|
|
ENST00000678303.1:c.1829_1833delinsTCCTC
|
ENSP00000503696.1:p.Phe610=
|
|
|
ENST00000678366.1:c.*2168_*2172delinsTCCTC
|
ENSP00000504353.1:n.*2168_*2172delinsTCCTC
|
|
|
ENST00000678546.1:c.*1864_*1868delinsTCCTC
|
ENSP00000503062.1:n.*1864_*1868delinsTCCTC
|
|
|
ENST00000678548.1:c.*2058_*2062delinsTCCTC
|
ENSP00000503934.1:n.*2058_*2062delinsTCCTC
|
|
|
ENST00000678626.1:n.1755_1759delinsTCCTC
|
|
|
|
ENST00000678739.1:c.*2147-62_*2147-58delinsTCCTC
|
ENSP00000503806.1:n.*2147-62_*2147-58delinsTCCTC
|
|
|
ENST00000678833.1:c.*1671_*1675delinsTCCTC
|
ENSP00000503893.1:n.*1671_*1675delinsTCCTC
|
|
|
ENST00000679023.1:c.1757_1761delinsTCCTC
|
ENSP00000503718.1:p.Phe586=
|
|
|
ENST00000679076.1:c.1538_1542delinsTCCTC
|
|
|
|
ENST00000679111.1:c.*675_*679delinsTCCTC
|
ENSP00000504257.1:n.*675_*679delinsTCCTC
|
|
|
ENST00000679189.1:c.1568_1572delinsTCCTC
|
ENSP00000503356.1:p.Phe523=
|
|
|
ENST00000341012.11:c.1757_1761delinsTCCTC
|
ENSP00000343034.7:p.Phe586=
|
|
|
ENST00000372220.4:c.782_786delinsTCCTC
|
ENSP00000361294.4:p.Phe261=
|
|
|
ENST00000372228.7:c.1985_1989delinsTCCTC
|
ENSP00000361302.3:p.Phe662=
|
|
|
ENST00000402686.7:c.1919_1923delinsTCCTC
|
ENSP00000385797.3:p.Phe640=
|
|
|
ENST00000404875.6:c.1568_1572delinsTCCTC
|
ENSP00000384531.2:p.Phe523=
|
|
|
ENST00000423007.5:c.1919_1923delinsTCCTC
|
ENSP00000404119.1:p.Phe640=
|
|
|
ENST00000485278.5:n.2469_2473delinsTCCTC
|
|
|
|
ENST00000494883.1:n.462_466delinsTCCTC
|
|
|
|
NM_001077365.1:c.1919_1923delinsTCCTC
|
NP_001070833.1:p.Phe640=
|
|
|
NM_001077366.1:c.1757_1761delinsTCCTC
|
NP_001070834.1:p.Phe586=
|
|
|
NM_001136113.1:c.1919_1923delinsTCCTC
|
NP_001129585.1:p.Phe640=
|
|
|
NM_001136114.1:c.1568_1572delinsTCCTC
|
NP_001129586.1:p.Phe523=
|
|
|
NM_007171.3:c.1985_1989delinsTCCTC
|
NP_009102.3:p.Phe662=
|
|
|
XM_005272156.1:c.1985_1989delinsTCCTC
|
XP_005272213.1:p.Phe662=
|
|
|
XM_005272158.1:c.1823_1827delinsTCCTC
|
XP_005272215.1:p.Phe608=
|
|
|
XM_005272159.1:c.1634_1638delinsTCCTC
|
XP_005272216.1:p.Phe545=
|
|
|
XM_005272162.1:c.788_792delinsTCCTC
|
XP_005272219.1:p.Phe263=
|
|
|
XM_006716932.1:c.1634_1638delinsTCCTC
|
XP_006716995.1:p.Phe545=
|
|
|
XM_011518140.1:c.1838_1842delinsTCCTC
|
XP_011516442.1:p.Phe613=
|
|
|
XM_011518141.1:c.1772_1776delinsTCCTC
|
XP_011516443.1:p.Phe591=
|
|
|
XM_011518142.1:c.1676_1680delinsTCCTC
|
XP_011516444.1:p.Phe559=
|
|
|
XM_011518143.1:c.1670_1674delinsTCCTC
|
XP_011516445.1:p.Phe557=
|
|
|
XM_011518145.1:c.1529_1533delinsTCCTC
|
XP_011516447.1:p.Phe510=
|
|
|
XM_011518147.1:c.857_861delinsTCCTC
|
XP_011516449.1:p.Phe286=
|
|
|
XR_929703.1:n.2161_2165delinsTCCTC
|
|
|
|
NM_001353193.1:c.1985_1989delinsTCCTC
|
NP_001340122.1:p.Phe662=
|
|
|
NM_001353194.1:c.1757_1761delinsTCCTC
|
NP_001340123.1:p.Phe586=
|
|
|
NM_001353195.1:c.1568_1572delinsTCCTC
|
NP_001340124.1:p.Phe523=
|
|
|
NM_001353196.1:c.1829_1833delinsTCCTC
|
NP_001340125.1:p.Phe610=
|
|
|
NM_001353197.1:c.1823_1827delinsTCCTC
|
NP_001340126.1:p.Phe608=
|
|
|
NM_001353198.1:c.1823_1827delinsTCCTC
|
NP_001340127.1:p.Phe608=
|
|
|
NM_001353199.1:c.1634_1638delinsTCCTC
|
NP_001340128.1:p.Phe545=
|
|
|
NM_001353200.1:c.1463_1467delinsTCCTC
|
NP_001340129.1:p.Phe488=
|
|
|
NR_148391.1:n.1969_1973delinsTCCTC
|
|
|
|
NR_148392.1:n.2187_2191delinsTCCTC
|
|
|
|
NR_148393.1:n.2108_2112delinsTCCTC
|
|
|
|
NR_148394.1:n.1862_1866delinsTCCTC
|
|
|
|
NR_148395.1:n.2260_2264delinsTCCTC
|
|
|
|
NR_148396.1:n.1894_1898delinsTCCTC
|
|
|
|
NR_148397.1:n.2019_2023delinsTCCTC
|
|
|
|
NR_148398.1:n.1974_1978delinsTCCTC
|
|
|
|
NR_148399.1:n.2500_2504delinsTCCTC
|
|
|
|
NR_148400.1:n.2099_2103delinsTCCTC
|
|
|
|
XM_005272162.3:c.788_792delinsTCCTC
|
XP_005272219.1:p.Phe263=
|
|
|
XM_006716932.2:c.1634_1638delinsTCCTC
|
XP_006716995.1:p.Phe545=
|
|
|
XM_011518140.2:c.1838_1842delinsTCCTC
|
XP_011516442.1:p.Phe613=
|
|
|
XM_011518141.2:c.1772_1776delinsTCCTC
|
XP_011516443.1:p.Phe591=
|
|
|
XM_011518142.2:c.1676_1680delinsTCCTC
|
XP_011516444.1:p.Phe559=
|
|
|
XM_011518143.2:c.1670_1674delinsTCCTC
|
XP_011516445.1:p.Phe557=
|
|
|
XM_011518145.2:c.1529_1533delinsTCCTC
|
XP_011516447.1:p.Phe510=
|
|
|
XM_017014205.2:c.788_792delinsTCCTC
|
XP_016869694.1:p.Phe263=
|
|
|
XM_024447380.1:c.788_792delinsTCCTC
|
XP_024303148.1:p.Phe263=
|
|
|
XM_024447381.1:c.1094_1098delinsTCCTC
|
XP_024303149.1:p.Phe365=
|
|
|
XM_024447382.1:c.788_792delinsTCCTC
|
XP_024303150.1:p.Phe263=
|
|
|
XR_001746160.2:n.2089_2093delinsTCCTC
|
|
|
|
XR_001746162.2:n.2294_2298delinsTCCTC
|
|
|
|
XR_001746164.1:n.2011_2015delinsTCCTC
|
|
|
|
XR_001746166.2:n.2306_2310delinsTCCTC
|
|
|
|
NM_001077365.2:c.1919_1923delinsTCCTC
MANE Select
|
NP_001070833.1:p.Phe640=
|
|
|
NM_001077366.2:c.1757_1761delinsTCCTC
|
NP_001070834.1:p.Phe586=
|
|
|
NM_001136113.2:c.1919_1923delinsTCCTC
|
NP_001129585.1:p.Phe640=
|
|
|
NM_001136114.2:c.1568_1572delinsTCCTC
|
NP_001129586.1:p.Phe523=
|
|
|
NM_001353193.2:c.1985_1989delinsTCCTC
|
NP_001340122.2:p.Phe662=
|
|
|
NM_001353194.2:c.1757_1761delinsTCCTC
|
NP_001340123.1:p.Phe586=
|
|
|
NM_001353195.2:c.1568_1572delinsTCCTC
|
NP_001340124.1:p.Phe523=
|
|
|
NM_001353196.2:c.1829_1833delinsTCCTC
|
NP_001340125.1:p.Phe610=
|
|
|
NM_001353197.2:c.1823_1827delinsTCCTC
|
NP_001340126.2:p.Phe608=
|
|
|
NM_001353198.2:c.1823_1827delinsTCCTC
|
NP_001340127.2:p.Phe608=
|
|
|
NM_001353199.2:c.1634_1638delinsTCCTC
|
NP_001340128.2:p.Phe545=
|
|
|
NM_001353200.2:c.1463_1467delinsTCCTC
|
NP_001340129.1:p.Phe488=
|
|
|
NM_001374689.1:c.1907_1911delinsTCCTC
|
NP_001361618.1:p.Phe636=
|
|
|
NM_001374690.1:c.1700_1704delinsTCCTC
|
NP_001361619.1:p.Phe567=
|
|
|
NM_001374691.1:c.1568_1572delinsTCCTC
|
NP_001361620.1:p.Phe523=
|
|
|
NM_001374692.1:c.1568_1572delinsTCCTC
|
NP_001361621.1:p.Phe523=
|
|
|
NM_001374693.1:c.1568_1572delinsTCCTC
|
NP_001361622.1:p.Phe523=
|
|
|
NM_001374695.1:c.1529_1533delinsTCCTC
|
NP_001361624.1:p.Phe510=
|
|
|
NM_007171.4:c.1985_1989delinsTCCTC
|
NP_009102.4:p.Phe662=
|
|
|
NR_148391.2:n.1953_1957delinsTCCTC
|
|
|
|
NR_148392.2:n.2171_2175delinsTCCTC
|
|
|
|
NR_148393.2:n.2092_2096delinsTCCTC
|
|
|
|
NR_148394.2:n.1846_1850delinsTCCTC
|
|
|
|
NR_148395.2:n.2244_2248delinsTCCTC
|
|
|
|
NR_148396.2:n.1878_1882delinsTCCTC
|
|
|
|
NR_148397.2:n.2003_2007delinsTCCTC
|
|
|
|
NR_148398.2:n.1958_1962delinsTCCTC
|
|
|
|
NR_148399.2:n.2484_2488delinsTCCTC
|
|
|
|
NR_148400.2:n.2083_2087delinsTCCTC
|
|
|
