ENST00000313771.10:n.1023_1024del
|
|
|
ENST00000355740.8:c.*37_*38del
|
ENSP00000347979.3:n.*37_*38del
|
|
ENST00000357339.7:c.651_652del
|
ENSP00000349896.2:p.Val218HisfsTer7
|
|
ENST00000371857.8:n.2259_2260del
|
|
|
ENST00000460510.6:c.-4_-3del
|
ENSP00000512812.1:n.-4_-3del
|
|
ENST00000466081.6:n.2363_2364del
|
|
|
ENST00000477270.6:c.759_760del
|
ENSP00000512813.1:p.Val254HisfsTer7
|
|
ENST00000479522.6:c.*143_*144del
|
ENSP00000424113.1:n.*143_*144del
|
|
ENST00000484444.6:c.*155_*156del
|
ENSP00000420975.1:n.*155_*156del
|
|
ENST00000488877.6:c.605_606del
|
ENSP00000425159.1:n.605_606del
|
|
ENST00000492756.7:c.*143_*144del
|
ENSP00000422453.1:n.*143_*144del
|
|
ENST00000494799.6:c.-4_-3del
|
ENSP00000512834.1:n.-4_-3del
|
|
ENST00000562983.3:c.-4_-3del
|
ENSP00000512845.1:n.-4_-3del
|
|
ENST00000612663.6:c.*116_*117del
|
ENSP00000477997.3:n.*116_*117del
|
|
ENST00000640140.2:n.859_860del
|
|
|
ENST00000640250.2:n.213_214del
|
|
|
ENST00000640681.2:n.818_819del
|
|
|
ENST00000696723.1:n.4347_4348del
|
|
|
ENST00000696741.1:n.2352_2353del
|
|
|
ENST00000696742.1:n.2079_2080del
|
|
|
ENST00000696743.1:n.3482_3483del
|
|
|
ENST00000696744.1:n.753_754del
|
|
|
ENST00000696767.1:n.1048_1049del
|
|
|
ENST00000696768.1:c.*37_*38del
|
ENSP00000512859.1:n.*37_*38del
|
|
ENST00000696769.1:n.2403_2404del
|
|
|
ENST00000696771.1:c.-4_-3del
|
ENSP00000512860.1:n.-4_-3del
|
|
ENST00000696772.1:n.2317_2318del
|
|
|
ENST00000696773.1:n.2056_2057del
|
|
|
ENST00000696774.1:n.5824_5825del
|
|
|
ENST00000696776.1:c.807_808del
|
ENSP00000512861.1:p.Val270HisfsTer7
|
|
ENST00000696777.1:n.2122_2123del
|
|
|
ENST00000696778.1:n.1150_1151del
|
|
|
ENST00000696779.1:c.321_322del
|
ENSP00000512862.1:p.Val108HisfsTer7
|
|
ENST00000696780.1:c.744_745del
|
ENSP00000512863.1:p.Val249HisfsTer7
|
|
ENST00000696781.1:c.459_460del
|
ENSP00000512864.1:p.Val154HisfsTer7
|
|
ENST00000696782.1:c.*116_*117del
|
ENSP00000512865.1:n.*116_*117del
|
|
ENST00000696783.1:n.2582_2583del
|
|
|
ENST00000696992.1:n.1831_1832del
|
|
|
ENST00000696995.1:n.4243_4244del
|
|
|
ENST00000696996.1:n.2156_2157del
|
|
|
ENST00000696997.1:c.*344_*345del
|
ENSP00000513028.1:n.*344_*345del
|
|
ENST00000696998.1:n.1968_1969del
|
|
|
ENST00000696999.1:c.-4_-3del
|
ENSP00000513029.1:n.-4_-3del
|
|
ENST00000697035.1:c.*47_*48del
|
ENSP00000513059.1:n.*47_*48del
|
|
ENST00000697036.1:c.*130_*131del
|
ENSP00000513060.1:n.*130_*131del
|
|
ENST00000697037.1:n.749_750del
|
|
|
ENST00000697093.1:n.2950_2951del
|
|
|
ENST00000697094.1:n.3297_3298del
|
|
|
ENST00000697095.1:c.*1915_*1916del
|
ENSP00000513104.1:n.*1915_*1916del
|
|
ENST00000697096.1:n.1847_1848del
|
|
|
ENST00000697097.1:c.-4_-3del
|
ENSP00000513105.1:n.-4_-3del
|
|
ENST00000562983.2:n.900_901del
|
|
|
ENST00000690268.1:c.795_796del
|
ENSP00000509810.1:p.Val266HisfsTer7
|
|
ENST00000355740.7:c.*40_*41del
|
ENSP00000347979.3:n.*40_*41del
|
|
ENST00000612663.5:c.*116_*117del
|
ENSP00000477997.3:n.*116_*117del
|
|
ENST00000640140.1:n.886_887del
|
|
|
ENST00000640250.1:n.213_214del
|
|
|
ENST00000640681.1:n.835_836del
|
|
|
ENST00000652046.1:c.714_715del
MANE Select
|
ENSP00000498466.1:p.Val239HisfsTer7
|
|
ENST00000313771.9:n.1023_1024del
|
|
|
ENST00000352159.8:c.*31_*32del
|
ENSP00000345601.4:n.*31_*32del
|
|
ENST00000355279.2:c.689_690del
|
ENSP00000347426.2:n.689_690del
|
|
ENST00000355740.6:c.714_715del
|
ENSP00000347979.2:p.Val239HisfsTer7
|
|
ENST00000357339.6:c.651_652del
|
ENSP00000349896.2:p.Val218HisfsTer7
|
|
ENST00000479522.5:c.*143_*144del
|
ENSP00000424113.1:n.*143_*144del
|
|
ENST00000484444.5:c.*155_*156del
|
ENSP00000420975.1:n.*155_*156del
|
|
ENST00000488877.5:c.*155_*156del
|
ENSP00000425159.1:n.*155_*156del
|
|
ENST00000492756.5:c.542_543del
|
ENSP00000422453.1:n.542_543del
|
|
ENST00000494410.5:c.*72_*73del
|
ENSP00000423755.1:n.*72_*73del
|
|
ENST00000494799.5:n.621_622del
|
|
|
ENST00000612663.4:c.*61_*62del
|
ENSP00000477997.2:n.*61_*62del
|
|
ENST00000615406.4:c.714_715del
|
ENSP00000484575.1:p.Val239HisfsTer7
|
|
ENST00000626542.2:c.712_713del
|
ENSP00000485876.1:p.His239Ter
|
|
NM_000043.4:c.714_715del , LRG_134t1:c.714_715del
|
NP_000034.1:p.Val239HisfsTer7
|
|
NM_152871.2:c.651_652del
|
NP_690610.1:p.Val218HisfsTer7
|
|
NM_152872.2:c.*26_*27del
|
NP_690611.1:n.*26_*27del
|
|
NR_028033.2:n.888_889del
|
|
|
NR_028034.2:n.750_751del
|
|
|
NR_028035.2:n.813_814del
|
|
|
NR_028036.2:n.951_952del
|
|
|
XM_006717819.2:c.795_796del
|
XP_006717882.1:p.Val266HisfsTer7
|
|
XM_011539764.1:c.876_877del
|
XP_011538066.1:p.Val293HisfsTer7
|
|
XM_011539765.1:c.813_814del
|
XP_011538067.1:p.Val272HisfsTer7
|
|
XM_011539766.1:c.795_796del
|
XP_011538068.1:p.Val266HisfsTer7
|
|
XM_011539767.1:c.759_760del
|
XP_011538069.1:p.Val254HisfsTer7
|
|
XR_945732.1:n.782_783del
|
|
|
XR_945733.1:n.719_720del
|
|
|
NM_000043.5:c.714_715del
|
NP_000034.1:p.Val239HisfsTer7
|
|
NM_001320619.1:c.*37_*38del
|
NP_001307548.1:n.*37_*38del
|
|
NM_152871.3:c.651_652del
|
NP_690610.1:p.Val218HisfsTer7
|
|
NM_152872.3:c.*26_*27del
|
NP_690611.1:n.*26_*27del
|
|
NR_028033.3:n.860_861del
|
|
|
NR_028034.3:n.722_723del
|
|
|
NR_028035.3:n.785_786del
|
|
|
NR_028036.3:n.923_924del
|
|
|
NR_135313.1:n.840_841del
|
|
|
NR_135314.1:n.1023_1024del
|
|
|
NR_135315.1:n.776_777del
|
|
|
XM_006717819.3:c.795_796del
|
XP_006717882.1:p.Val266HisfsTer7
|
|
XM_011539764.2:c.876_877del
|
XP_011538066.1:p.Val293HisfsTer7
|
|
XM_011539765.2:c.813_814del
|
XP_011538067.1:p.Val272HisfsTer7
|
|
XM_011539766.2:c.795_796del
|
XP_011538068.1:p.Val266HisfsTer7
|
|
XM_011539767.3:c.759_760del
|
XP_011538069.1:p.Val254HisfsTer7
|
|
XR_945732.3:n.782_783del
|
|
|
XR_945733.2:n.719_720del
|
|
|
NM_000043.6:c.714_715del
MANE Select
|
NP_000034.1:p.Val239HisfsTer7
|
|
NM_001320619.2:c.*37_*38del
|
NP_001307548.1:n.*37_*38del
|
|
NM_152871.4:c.651_652del
|
NP_690610.1:p.Val218HisfsTer7
|
|
NM_152872.4:c.*26_*27del
|
NP_690611.1:n.*26_*27del
|
|
NR_028033.4:n.621_622del
|
|
|
NR_028034.4:n.483_484del
|
|
|
NR_028035.4:n.546_547del
|
|
|
NR_028036.4:n.684_685del
|
|
|
NR_135313.2:n.601_602del
|
|
|
NR_135314.2:n.880_881del
|
|
|
NR_135315.2:n.633_634del
|
|
|