Canonical Allele Identifier: CA10576737

Gene: EYA1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71321748_71321758del , CM000670.2:g.71321748_71321758del	GRCh38
NC_000008.10:g.72233983_72233993del , CM000670.1:g.72233983_72233993del	GRCh37
NC_000008.9:g.72396537_72396547del	NCBI36
NG_011735.2:g.45477_45487del
NG_011735.3:g.231375_231385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.396_406del MANE Select	ENSP00000342626.3:p.Gln132HisfsTer14
ENST00000388741.7:c.294_304del	ENSP00000373393.2:p.Gln98HisfsTer14
ENST00000419131.6:c.396_406del	ENSP00000410176.1:p.Gln132HisfsTer9
ENST00000465115.6:c.329_339del	ENSP00000428391.1:p.Ser110IlefsTer?
ENST00000496494.6:n.859_869del
ENST00000642391.1:c.*178_*188del	ENSP00000496700.1:n.*178_*188del
ENST00000643681.1:c.483_493del	ENSP00000495390.1:p.Gln161HisfsTer14
ENST00000644229.1:c.483_493del	ENSP00000494568.1:p.Gln161HisfsTer9
ENST00000644712.1:c.480_490del	ENSP00000496188.1:p.Gln160HisfsTer9
ENST00000645793.1:c.396_406del	ENSP00000496255.1:p.Gln132HisfsTer14
ENST00000647540.1:c.396_406del	ENSP00000494438.1:p.Gln132HisfsTer14
ENST00000303824.11:c.393_403del	ENSP00000303221.7:p.Gln131HisfsTer9
ENST00000340726.7:c.396_406del	ENSP00000342626.3:p.Gln132HisfsTer14
ENST00000388740.4:c.297_307del	ENSP00000373392.3:p.Gln99HisfsTer14
ENST00000388741.6:c.294_304del	ENSP00000373393.2:p.Gln98HisfsTer14
ENST00000388742.8:c.396_406del	ENSP00000373394.4:p.Gln132HisfsTer14
ENST00000388743.6:c.393_403del	ENSP00000373395.2:p.Gln131HisfsTer14
ENST00000419131.5:c.396_406del	ENSP00000410176.1:p.Gln132HisfsTer9
ENST00000422295.1:n.387_397del
ENST00000465115.5:c.329_339del	ENSP00000428391.1:p.Ser110IlefsTer?
ENST00000496494.5:n.891_901del
NM_000503.5:c.396_406del	NP_000494.2:p.Gln132HisfsTer14
NM_001288574.1:c.393_403del	NP_001275503.1:p.Gln131HisfsTer9
NM_001288575.1:c.45_55del	NP_001275504.1:p.Gln15HisfsTer9
NM_172058.3:c.396_406del	NP_742055.1:p.Gln132HisfsTer14
NM_172059.3:c.396_406del	NP_742056.1:p.Gln132HisfsTer9
NM_172060.3:c.297_307del	NP_742057.1:p.Gln99HisfsTer14
XM_011517481.1:c.468_478del	XP_011515783.1:p.Gln156HisfsTer14
XM_011517482.1:c.483_493del	XP_011515784.1:p.Gln161HisfsTer14
XM_011517483.1:c.393_403del	XP_011515785.1:p.Gln131HisfsTer14
XM_011517484.1:c.396_406del	XP_011515786.1:p.Gln132HisfsTer9
XM_011517485.1:c.396_406del	XP_011515787.1:p.Gln132HisfsTer14
XM_011517486.1:c.396_406del	XP_011515788.1:p.Gln132HisfsTer14
XM_011517487.1:c.396_406del	XP_011515789.1:p.Gln132HisfsTer14
XM_011517488.1:c.393_403del	XP_011515790.1:p.Gln131HisfsTer14
XM_011517489.1:c.333_343del	XP_011515791.1:p.Gln111HisfsTer14
XM_011517490.1:c.297_307del	XP_011515792.1:p.Gln99HisfsTer14
XM_011517491.1:c.297_307del	XP_011515793.1:p.Gln99HisfsTer14
XM_011517492.1:c.45_55del	XP_011515794.1:p.Gln15HisfsTer14
NM_172059.4:c.483_493del	NP_742056.2:p.Gln161HisfsTer9
XM_011517483.2:c.393_403del	XP_011515785.1:p.Gln131HisfsTer14
XM_011517484.3:c.483_493del	XP_011515786.2:p.Gln161HisfsTer9
XM_017013201.1:c.483_493del	XP_016868690.1:p.Gln161HisfsTer14
XM_017013202.1:c.483_493del	XP_016868691.1:p.Gln161HisfsTer14
XM_017013203.2:c.480_490del	XP_016868692.1:p.Gln160HisfsTer14
XM_017013204.2:c.480_490del	XP_016868693.1:p.Gln160HisfsTer9
XM_017013205.2:c.483_493del	XP_016868694.1:p.Gln161HisfsTer14
XM_017013206.1:c.396_406del	XP_016868695.1:p.Gln132HisfsTer14
XM_017013207.2:c.483_493del	XP_016868696.1:p.Gln161HisfsTer14
XM_017013208.2:c.393_403del	XP_016868697.1:p.Gln131HisfsTer14
XM_017013210.2:c.480_490del	XP_016868699.1:p.Gln160HisfsTer9
XM_017013211.2:c.333_343del	XP_016868700.1:p.Gln111HisfsTer14
XM_017013212.2:c.297_307del	XP_016868701.1:p.Gln99HisfsTer14
XM_017013213.1:c.45_55del	XP_016868702.1:p.Gln15HisfsTer14
NM_000503.6:c.396_406del MANE Select	NP_000494.2:p.Gln132HisfsTer14
NM_001288574.2:c.393_403del	NP_001275503.1:p.Gln131HisfsTer9
NM_001288575.2:c.45_55del	NP_001275504.1:p.Gln15HisfsTer9
NM_001370333.1:c.483_493del	NP_001357262.1:p.Gln161HisfsTer14
NM_001370334.1:c.396_406del	NP_001357263.1:p.Gln132HisfsTer14
NM_001370335.1:c.396_406del	NP_001357264.1:p.Gln132HisfsTer14
NM_001370336.1:c.480_490del	NP_001357265.1:p.Gln160HisfsTer9
NM_172058.4:c.396_406del	NP_742055.1:p.Gln132HisfsTer14
NM_172059.5:c.483_493del	NP_742056.2:p.Gln161HisfsTer9