Canonical Allele Identifier: CA2695209834

Gene: EYA1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71271868del , CM000670.2:g.71271868del	GRCh38
NC_000008.10:g.72184103del , CM000670.1:g.72184103del	GRCh37
NC_000008.9:g.72346657del	NCBI36
NG_011735.2:g.95367del
NG_011735.3:g.281265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.858del MANE Select	ENSP00000342626.3:p.Ile287LeufsTer?
ENST00000388741.7:c.756del	ENSP00000373393.2:p.Ile253LeufsTer?
ENST00000419131.6:c.843del	ENSP00000410176.1:p.Ile282LeufsTer?
ENST00000465115.6:c.*137del	ENSP00000428391.1:n.*137del
ENST00000493349.2:c.94del
ENST00000496494.6:n.1321del
ENST00000642391.1:c.*625del	ENSP00000496700.1:n.*625del
ENST00000643681.1:c.945del	ENSP00000495390.1:p.Ile316LeufsTer?
ENST00000644229.1:c.930del	ENSP00000494568.1:p.Ile311LeufsTer?
ENST00000644712.1:c.927del	ENSP00000496188.1:p.Ile310LeufsTer?
ENST00000645793.1:c.858del	ENSP00000496255.1:p.Ile287LeufsTer?
ENST00000647540.1:c.858del	ENSP00000494438.1:p.Ile287LeufsTer?
ENST00000303824.11:c.840del	ENSP00000303221.7:p.Ile281LeufsTer?
ENST00000340726.7:c.858del	ENSP00000342626.3:p.Ile287LeufsTer?
ENST00000388740.4:c.759del	ENSP00000373392.3:p.Ile254LeufsTer?
ENST00000388741.6:c.756del	ENSP00000373393.2:p.Ile253LeufsTer?
ENST00000388742.8:c.858del	ENSP00000373394.4:p.Ile287LeufsTer?
ENST00000388743.6:c.855del	ENSP00000373395.2:p.Ile286LeufsTer?
ENST00000419131.5:c.843del	ENSP00000410176.1:p.Ile282LeufsTer?
ENST00000465115.5:c.*137del	ENSP00000428391.1:n.*137del
ENST00000493349.1:c.-226del	ENSP00000428517.1:n.-226del
ENST00000496494.5:n.1353del
NM_000503.5:c.858del	NP_000494.2:p.Ile287LeufsTer?
NM_001288574.1:c.840del	NP_001275503.1:p.Ile281LeufsTer?
NM_001288575.1:c.492del	NP_001275504.1:p.Ile165LeufsTer?
NM_172058.3:c.858del	NP_742055.1:p.Ile287LeufsTer?
NM_172059.3:c.843del	NP_742056.1:p.Ile282LeufsTer?
NM_172060.3:c.759del	NP_742057.1:p.Ile254LeufsTer?
XM_011517481.1:c.930del	XP_011515783.1:p.Ile311LeufsTer?
XM_011517482.1:c.945del	XP_011515784.1:p.Ile316LeufsTer?
XM_011517483.1:c.855del	XP_011515785.1:p.Ile286LeufsTer?
XM_011517484.1:c.843del	XP_011515786.1:p.Ile282LeufsTer?
XM_011517485.1:c.858del	XP_011515787.1:p.Ile287LeufsTer?
XM_011517486.1:c.858del	XP_011515788.1:p.Ile287LeufsTer?
XM_011517487.1:c.858del	XP_011515789.1:p.Ile287LeufsTer?
XM_011517488.1:c.855del	XP_011515790.1:p.Ile286LeufsTer?
XM_011517489.1:c.795del	XP_011515791.1:p.Ile266LeufsTer?
XM_011517490.1:c.759del	XP_011515792.1:p.Ile254LeufsTer?
XM_011517491.1:c.759del	XP_011515793.1:p.Ile254LeufsTer?
XM_011517492.1:c.507del	XP_011515794.1:p.Ile170LeufsTer?
NM_172059.4:c.930del	NP_742056.2:p.Ile311LeufsTer?
XM_011517483.2:c.855del	XP_011515785.1:p.Ile286LeufsTer?
XM_011517484.3:c.930del	XP_011515786.2:p.Ile311LeufsTer?
XM_017013201.1:c.945del	XP_016868690.1:p.Ile316LeufsTer?
XM_017013202.1:c.945del	XP_016868691.1:p.Ile316LeufsTer?
XM_017013203.2:c.942del	XP_016868692.1:p.Ile315LeufsTer?
XM_017013204.2:c.927del	XP_016868693.1:p.Ile310LeufsTer?
XM_017013205.2:c.945del	XP_016868694.1:p.Ile316LeufsTer?
XM_017013206.1:c.858del	XP_016868695.1:p.Ile287LeufsTer?
XM_017013207.2:c.945del	XP_016868696.1:p.Ile316LeufsTer?
XM_017013208.2:c.855del	XP_016868697.1:p.Ile286LeufsTer?
XM_017013210.2:c.927del	XP_016868699.1:p.Ile310LeufsTer?
XM_017013211.2:c.795del	XP_016868700.1:p.Ile266LeufsTer?
XM_017013212.2:c.759del	XP_016868701.1:p.Ile254LeufsTer?
XM_017013213.1:c.507del	XP_016868702.1:p.Ile170LeufsTer?
NM_000503.6:c.858del MANE Select	NP_000494.2:p.Ile287LeufsTer?
NM_001288574.2:c.840del	NP_001275503.1:p.Ile281LeufsTer?
NM_001288575.2:c.492del	NP_001275504.1:p.Ile165LeufsTer?
NM_001370333.1:c.945del	NP_001357262.1:p.Ile316LeufsTer?
NM_001370334.1:c.858del	NP_001357263.1:p.Ile287LeufsTer?
NM_001370335.1:c.858del	NP_001357264.1:p.Ile287LeufsTer?
NM_001370336.1:c.927del	NP_001357265.1:p.Ile310LeufsTer?
NM_172058.4:c.858del	NP_742055.1:p.Ile287LeufsTer?
NM_172059.5:c.930del	NP_742056.2:p.Ile311LeufsTer?