Canonical Allele Identifier: CA2205340281

Gene: RBFOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.7579912del , CM000678.2:g.7579912del	GRCh38
NC_000016.9:g.7629914del , CM000678.1:g.7629914del	GRCh37
NC_000016.8:g.7569915del	NCBI36
NG_011881.1:g.1565783del
NG_011881.2:g.2345161del

Transcript Alleles

HGVS	Amino-acid Change
NM_018723.4:c.406del MANE Select	NP_061193.2:p.Met136CysfsTer9
ENST00000550418.6:c.406del MANE Select	ENSP00000450031.1:p.Met136CysfsTer9
NM_145893.3:c.466del MANE Plus Clinical	NP_665900.1:p.Met156CysfsTer9
ENST00000355637.9:c.466del MANE Plus Clinical	ENSP00000347855.4:p.Met156CysfsTer9
NM_001142333.1:c.406del	NP_001135805.1:p.Met136CysfsTer9
NM_001142333.2:c.406del	NP_001135805.1:p.Met136CysfsTer9
NM_001142334.1:c.406del	NP_001135806.1:p.Met136CysfsTer9
NM_001142334.2:c.406del	NP_001135806.1:p.Met136CysfsTer9
NM_001308117.1:c.535del	NP_001295046.1:p.Met179CysfsTer9
NM_001364800.1:c.406del	NP_001351729.1:p.Met136CysfsTer9
NM_001364800.2:c.406del	NP_001351729.1:p.Met136CysfsTer9
NM_018723.3:c.406del	NP_061193.2:p.Met136CysfsTer9
NM_145891.2:c.466del	NP_665898.1:p.Met156CysfsTer9
NM_145891.3:c.466del	NP_665898.1:p.Met156CysfsTer9
NM_145892.2:c.466del	NP_665899.1:p.Met156CysfsTer9
NM_145892.3:c.466del	NP_665899.1:p.Met156CysfsTer9
NM_145893.2:c.466del	NP_665900.1:p.Met156CysfsTer9
ENST00000311745.9:c.466del	ENSP00000309117.5:p.Met156CysfsTer9
ENST00000340209.8:c.421del	ENSP00000344196.4:p.Met141CysfsTer9
ENST00000355637.8:c.466del	ENSP00000347855.4:p.Met156CysfsTer9
ENST00000422070.8:c.535del	ENSP00000391269.4:p.Met179CysfsTer9
ENST00000436368.6:c.466del	ENSP00000402745.2:p.Met156CysfsTer9
ENST00000535565.6:c.379-7335del	ENSP00000438768.2:n.379-7335del
ENST00000547338.5:c.406del	ENSP00000447717.1:p.Met136CysfsTer9
ENST00000547372.5:c.535del	ENSP00000446842.1:p.Met179CysfsTer9
ENST00000547605.5:c.403del	ENSP00000450402.1:p.Met135CysfsTer9
ENST00000550418.5:c.406del	ENSP00000450031.1:p.Met136CysfsTer9
ENST00000551752.5:c.406del	ENSP00000447281.1:p.Met136CysfsTer9
ENST00000552089.5:c.511del	ENSP00000448496.1:p.Met171CysfsTer8
ENST00000553186.5:c.406del	ENSP00000447753.1:p.Met136CysfsTer9
ENST00000570626.1:c.412del	ENSP00000458748.1:p.Met138CysfsTer9
ENST00000570626.2:c.409del	ENSP00000458748.2:p.Met137CysfsTer9
ENST00000620507.4:c.421del	ENSP00000484837.1:p.Met141CysfsTer9
ENST00000641259.1:c.883del	ENSP00000493041.1:p.Met295CysfsTer9
ENST00000674626.1:c.346del	ENSP00000502217.1:p.Met116CysfsTer9
ENST00000674792.1:c.346del	ENSP00000502682.1:p.Met116CysfsTer9
ENST00000675459.1:c.406del	ENSP00000502616.1:p.Met136CysfsTer9
ENST00000675562.1:c.481del	ENSP00000501878.1:p.Met161CysfsTer9
ENST00000675653.1:c.406del	ENSP00000502718.1:p.Met136CysfsTer9
ENST00000675842.1:c.406del	ENSP00000501599.1:p.Met136CysfsTer9
ENST00000675904.1:n.1126del
ENST00000676218.1:c.346del	ENSP00000502646.1:p.Met116CysfsTer9
ENST00000676253.1:n.1128del
ENST00000682918.1:c.412del	ENSP00000507921.1:p.Met138CysfsTer9
ENST00000683326.1:c.412del	ENSP00000507562.1:p.Met138CysfsTer9
ENST00000705321.1:c.346del	ENSP00000516112.1:p.Met116CysfsTer9
XM_005255379.2:c.634del	XP_005255436.1:p.Met212CysfsTer9
XM_005255380.2:c.613del	XP_005255437.1:p.Met205CysfsTer9
XM_005255381.2:c.580del	XP_005255438.1:p.Met194CysfsTer9
XM_005255382.2:c.565del	XP_005255439.1:p.Met189CysfsTer9
XM_005255383.3:c.511del	XP_005255440.1:p.Met171CysfsTer9
XM_005255384.2:c.505del	XP_005255441.1:p.Met169CysfsTer9
XM_005255385.3:c.505del	XP_005255442.1:p.Met169CysfsTer9
XM_005255386.2:c.481del	XP_005255443.1:p.Met161CysfsTer9
XM_005255386.4:c.481del	XP_005255443.1:p.Met161CysfsTer9
XM_005255387.2:c.466del	XP_005255444.1:p.Met156CysfsTer9
XM_005255387.4:c.466del	XP_005255444.1:p.Met156CysfsTer9
XM_005255388.3:c.412del	XP_005255445.1:p.Met138CysfsTer9
XM_005255390.2:c.406del	XP_005255447.1:p.Met136CysfsTer9
XM_005255390.4:c.406del	XP_005255447.1:p.Met136CysfsTer9
XM_005255391.2:c.406del	XP_005255448.1:p.Met136CysfsTer9
XM_005255391.4:c.406del	XP_005255448.1:p.Met136CysfsTer9
XM_005255393.2:c.466del	XP_005255450.1:p.Met156CysfsTer9
XM_005255394.3:c.466del	XP_005255451.1:p.Met156CysfsTer9
XM_005255394.4:c.466del	XP_005255451.1:p.Met156CysfsTer9
XM_011522544.1:c.982del	XP_011520846.1:p.Met328CysfsTer9
XM_011522545.1:c.511del	XP_011520847.1:p.Met171CysfsTer9
XM_011522546.1:c.466del	XP_011520848.1:p.Met156CysfsTer9
XM_011522546.2:c.466del	XP_011520848.1:p.Met156CysfsTer9
XM_011522547.1:c.466del	XP_011520849.1:p.Met156CysfsTer9
XM_011522547.2:c.466del	XP_011520849.1:p.Met156CysfsTer9
XM_011522548.1:c.466del	XP_011520850.1:p.Met156CysfsTer9
XM_011522548.2:c.466del	XP_011520850.1:p.Met156CysfsTer9
XM_017023318.2:c.1003del	XP_016878807.1:p.Met335CysfsTer9
XM_017023319.2:c.1003del	XP_016878808.1:p.Met335CysfsTer9
XM_017023320.2:c.535del	XP_016878809.1:p.Met179CysfsTer9
XM_017023321.2:c.514del	XP_016878810.1:p.Met172CysfsTer9
XM_017023322.2:c.514del	XP_016878811.1:p.Met172CysfsTer9
XM_017023323.2:c.481del	XP_016878812.1:p.Met161CysfsTer9
XM_017023324.2:c.535del	XP_016878813.1:p.Met179CysfsTer9
XM_017023326.2:c.406del	XP_016878815.1:p.Met136CysfsTer9
XM_017023327.1:c.481del	XP_016878816.1:p.Met161CysfsTer9
XM_017023328.2:c.535del	XP_016878817.1:p.Met179CysfsTer9
XM_017023329.2:c.535del	XP_016878818.1:p.Met179CysfsTer9
XM_017023330.1:c.514del	XP_016878819.1:p.Met172CysfsTer9
XM_017023331.2:c.346del	XP_016878820.1:p.Met116CysfsTer9
XM_017023332.1:c.481del	XP_016878821.1:p.Met161CysfsTer9
XM_017023333.1:c.406del	XP_016878822.1:p.Met136CysfsTer9
XM_017023334.1:c.481del	XP_016878823.1:p.Met161CysfsTer9
XM_017023335.2:c.406del	XP_016878824.1:p.Met136CysfsTer9
XM_017023336.1:c.406del	XP_016878825.1:p.Met136CysfsTer9
XM_017023337.1:c.481del	XP_016878826.1:p.Met161CysfsTer9
XM_017023338.1:c.406del	XP_016878827.1:p.Met136CysfsTer9
XM_017023340.1:c.406del	XP_016878829.1:p.Met136CysfsTer9
XM_017023341.2:c.406del	XP_016878830.1:p.Met136CysfsTer9
XM_017023342.1:c.406del	XP_016878831.1:p.Met136CysfsTer9
XM_024450303.1:c.964del	XP_024306071.1:p.Met322CysfsTer9
XM_024450304.1:c.514del	XP_024306072.1:p.Met172CysfsTer9
XM_024450305.1:c.514del	XP_024306073.1:p.Met172CysfsTer9
XM_024450306.1:c.466del	XP_024306074.1:p.Met156CysfsTer9
XM_024450307.1:c.406del	XP_024306075.1:p.Met136CysfsTer9
XM_024450308.1:c.481del	XP_024306076.1:p.Met161CysfsTer9
XM_024450309.1:c.535del	XP_024306077.1:p.Met179CysfsTer9
XM_024450310.1:c.535del	XP_024306078.1:p.Met179CysfsTer9
XM_024450311.1:c.514del	XP_024306079.1:p.Met172CysfsTer9
XM_024450312.1:c.514del	XP_024306080.1:p.Met172CysfsTer9
XM_024450313.1:c.514del	XP_024306081.1:p.Met172CysfsTer9
XM_024450314.1:c.535del	XP_024306082.1:p.Met179CysfsTer9
XM_024450315.1:c.346del	XP_024306083.1:p.Met116CysfsTer9
XM_024450316.1:c.406del	XP_024306084.1:p.Met136CysfsTer9