Canonical Allele Identifier: CA262032

Gene: EYA1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71244621del , CM000670.2:g.71244621del	GRCh38
NC_000008.10:g.72156856del , CM000670.1:g.72156856del	GRCh37
NC_000008.9:g.72319410del	NCBI36
NG_011735.2:g.122612del
NG_011735.3:g.308510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1122del MANE Select	ENSP00000342626.3:p.Leu374PhefsTer6
ENST00000388741.7:c.1020del	ENSP00000373393.2:p.Leu340PhefsTer6
ENST00000419131.6:c.1035+25119del	ENSP00000410176.1:n.1035+25119del
ENST00000465115.6:c.*401del	ENSP00000428391.1:n.*401del
ENST00000493349.2:c.358del
ENST00000496494.6:n.1585del
ENST00000642391.1:c.*817+25119del	ENSP00000496700.1:n.*817+25119del
ENST00000643681.1:c.1209del	ENSP00000495390.1:p.Leu403PhefsTer6
ENST00000644229.1:c.1122+25119del	ENSP00000494568.1:n.1122+25119del
ENST00000644424.1:n.192del
ENST00000644712.1:c.1119+25119del	ENSP00000496188.1:n.1119+25119del
ENST00000645793.1:c.1122del	ENSP00000496255.1:p.Leu374PhefsTer6
ENST00000647540.1:c.1122del	ENSP00000494438.1:p.Leu374PhefsTer6
ENST00000303824.11:c.1104del	ENSP00000303221.7:p.Leu368PhefsTer6
ENST00000340726.7:c.1122del	ENSP00000342626.3:p.Leu374PhefsTer6
ENST00000388740.4:c.1023del	ENSP00000373392.3:p.Leu341PhefsTer6
ENST00000388741.6:c.1020del	ENSP00000373393.2:p.Leu340PhefsTer6
ENST00000388742.8:c.1122del	ENSP00000373394.4:p.Leu374PhefsTer6
ENST00000388743.6:c.1119del	ENSP00000373395.2:p.Leu373PhefsTer6
ENST00000419131.5:c.1035+25119del	ENSP00000410176.1:n.1035+25119del
ENST00000465115.5:c.*401del	ENSP00000428391.1:n.*401del
ENST00000493349.1:c.39del	ENSP00000428517.1:p.Leu13PhefsTer6
ENST00000496494.5:n.1617del
NM_000503.5:c.1122del	NP_000494.2:p.Leu374PhefsTer6
NM_001288574.1:c.1104del	NP_001275503.1:p.Leu368PhefsTer6
NM_001288575.1:c.756del	NP_001275504.1:p.Leu252PhefsTer6
NM_172058.3:c.1122del	NP_742055.1:p.Leu374PhefsTer6
NM_172059.3:c.1035+25119del	NP_742056.1:n.1035+25119del
NM_172060.3:c.1023del	NP_742057.1:p.Leu341PhefsTer6
XM_011517481.1:c.1194del	XP_011515783.1:p.Leu398PhefsTer6
XM_011517482.1:c.1209del	XP_011515784.1:p.Leu403PhefsTer6
XM_011517483.1:c.1119del	XP_011515785.1:p.Leu373PhefsTer6
XM_011517484.1:c.1107del	XP_011515786.1:p.Leu369PhefsTer6
XM_011517485.1:c.1122del	XP_011515787.1:p.Leu374PhefsTer6
XM_011517486.1:c.1122del	XP_011515788.1:p.Leu374PhefsTer6
XM_011517487.1:c.1122del	XP_011515789.1:p.Leu374PhefsTer6
XM_011517488.1:c.1119del	XP_011515790.1:p.Leu373PhefsTer6
XM_011517489.1:c.1059del	XP_011515791.1:p.Leu353PhefsTer6
XM_011517490.1:c.1023del	XP_011515792.1:p.Leu341PhefsTer6
XM_011517491.1:c.1023del	XP_011515793.1:p.Leu341PhefsTer6
XM_011517492.1:c.771del	XP_011515794.1:p.Leu257PhefsTer6
NM_172059.4:c.1122+25119del	NP_742056.2:n.1122+25119del
XM_011517483.2:c.1119del	XP_011515785.1:p.Leu373PhefsTer6
XM_011517484.3:c.1194del	XP_011515786.2:p.Leu398PhefsTer6
XM_017013201.1:c.1209del	XP_016868690.1:p.Leu403PhefsTer6
XM_017013202.1:c.1209del	XP_016868691.1:p.Leu403PhefsTer6
XM_017013203.2:c.1206del	XP_016868692.1:p.Leu402PhefsTer6
XM_017013204.2:c.1191del	XP_016868693.1:p.Leu397PhefsTer6
XM_017013205.2:c.1209del	XP_016868694.1:p.Leu403PhefsTer6
XM_017013206.1:c.1122del	XP_016868695.1:p.Leu374PhefsTer6
XM_017013207.2:c.1137+25119del	XP_016868696.1:n.1137+25119del
XM_017013208.2:c.1119del	XP_016868697.1:p.Leu373PhefsTer6
XM_017013210.2:c.1119+25119del	XP_016868699.1:n.1119+25119del
XM_017013211.2:c.1059del	XP_016868700.1:p.Leu353PhefsTer6
XM_017013212.2:c.1023del	XP_016868701.1:p.Leu341PhefsTer6
XM_017013213.1:c.771del	XP_016868702.1:p.Leu257PhefsTer6
NM_000503.6:c.1122del MANE Select	NP_000494.2:p.Leu374PhefsTer6
NM_001288574.2:c.1104del	NP_001275503.1:p.Leu368PhefsTer6
NM_001288575.2:c.756del	NP_001275504.1:p.Leu252PhefsTer6
NM_001370333.1:c.1209del	NP_001357262.1:p.Leu403PhefsTer6
NM_001370334.1:c.1122del	NP_001357263.1:p.Leu374PhefsTer6
NM_001370335.1:c.1122del	NP_001357264.1:p.Leu374PhefsTer6
NM_001370336.1:c.1119+25119del	NP_001357265.1:n.1119+25119del
NM_172058.4:c.1122del	NP_742055.1:p.Leu374PhefsTer6
NM_172059.5:c.1122+25119del	NP_742056.2:n.1122+25119del