Canonical Allele Identifier: CA1115150676

Gene: EYA1

Linked Data

• gnomAD v3: 8-71216740-AGCGG-A
• gnomAD v4: 8-71216740-AGCGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216741_71216744del , CM000670.2:g.71216741_71216744del	GRCh38
NC_000008.10:g.72128976_72128979del , CM000670.1:g.72128976_72128979del	GRCh37
NC_000008.9:g.72291530_72291533del	NCBI36
NG_011735.2:g.150489_150492del
NG_011735.3:g.336387_336390del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.1308_1311del MANE Select	ENSP00000342626.3:p.Arg437ThrfsTer4
ENST00000388741.7:c.1206_1209del	ENSP00000373393.2:p.Arg403ThrfsTer4
ENST00000419131.6:c.1203_1206del	ENSP00000410176.1:p.Arg402ThrfsTer4
ENST00000465115.6:c.*587_*590del	ENSP00000428391.1:n.*587_*590del
ENST00000493349.2:c.698_701del
ENST00000496494.6:n.1771_1774del
ENST00000642391.1:c.*985_*988del	ENSP00000496700.1:n.*985_*988del
ENST00000643681.1:c.1395_1398del	ENSP00000495390.1:p.Arg466ThrfsTer4
ENST00000644229.1:c.1290_1293del	ENSP00000494568.1:p.Arg431ThrfsTer4
ENST00000644424.1:n.378_381del
ENST00000644712.1:c.1287_1290del	ENSP00000496188.1:p.Arg430ThrfsTer4
ENST00000645793.1:c.1308_1311del	ENSP00000496255.1:p.Arg437ThrfsTer4
ENST00000647540.1:c.1308_1311del	ENSP00000494438.1:p.Arg437ThrfsTer4
ENST00000303824.11:c.1290_1293del	ENSP00000303221.7:p.Arg431ThrfsTer4
ENST00000340726.7:c.1308_1311del	ENSP00000342626.3:p.Arg437ThrfsTer4
ENST00000388740.4:c.1209_1212del	ENSP00000373392.3:p.Arg404ThrfsTer4
ENST00000388741.6:c.1206_1209del	ENSP00000373393.2:p.Arg403ThrfsTer4
ENST00000388742.8:c.1308_1311del	ENSP00000373394.4:p.Arg437ThrfsTer4
ENST00000388743.6:c.1305_1308del	ENSP00000373395.2:p.Arg436ThrfsTer4
ENST00000419131.5:c.1203_1206del	ENSP00000410176.1:p.Arg402ThrfsTer4
ENST00000465115.5:c.*587_*590del	ENSP00000428391.1:n.*587_*590del
ENST00000493349.1:c.*253_*256del	ENSP00000428517.1:n.*253_*256del
ENST00000496494.5:n.1803_1806del
NM_000503.5:c.1308_1311del	NP_000494.2:p.Arg437ThrfsTer4
NM_001288574.1:c.1290_1293del	NP_001275503.1:p.Arg431ThrfsTer4
NM_001288575.1:c.942_945del	NP_001275504.1:p.Arg315ThrfsTer4
NM_172058.3:c.1308_1311del	NP_742055.1:p.Arg437ThrfsTer4
NM_172059.3:c.1203_1206del	NP_742056.1:p.Arg402ThrfsTer4
NM_172060.3:c.1209_1212del	NP_742057.1:p.Arg404ThrfsTer4
XM_011517481.1:c.1380_1383del	XP_011515783.1:p.Arg461ThrfsTer4
XM_011517482.1:c.1395_1398del	XP_011515784.1:p.Arg466ThrfsTer4
XM_011517483.1:c.1305_1308del	XP_011515785.1:p.Arg436ThrfsTer4
XM_011517484.1:c.1293_1296del	XP_011515786.1:p.Arg432ThrfsTer4
XM_011517485.1:c.1308_1311del	XP_011515787.1:p.Arg437ThrfsTer4
XM_011517486.1:c.1308_1311del	XP_011515788.1:p.Arg437ThrfsTer4
XM_011517487.1:c.1308_1311del	XP_011515789.1:p.Arg437ThrfsTer4
XM_011517488.1:c.1305_1308del	XP_011515790.1:p.Arg436ThrfsTer4
XM_011517489.1:c.1245_1248del	XP_011515791.1:p.Arg416ThrfsTer4
XM_011517490.1:c.1209_1212del	XP_011515792.1:p.Arg404ThrfsTer4
XM_011517491.1:c.1209_1212del	XP_011515793.1:p.Arg404ThrfsTer4
XM_011517492.1:c.957_960del	XP_011515794.1:p.Arg320ThrfsTer4
NM_172059.4:c.1290_1293del	NP_742056.2:p.Arg431ThrfsTer4
XM_011517483.2:c.1305_1308del	XP_011515785.1:p.Arg436ThrfsTer4
XM_011517484.3:c.1380_1383del	XP_011515786.2:p.Arg461ThrfsTer4
XM_017013201.1:c.1395_1398del	XP_016868690.1:p.Arg466ThrfsTer4
XM_017013202.1:c.1395_1398del	XP_016868691.1:p.Arg466ThrfsTer4
XM_017013203.2:c.1392_1395del	XP_016868692.1:p.Arg465ThrfsTer4
XM_017013204.2:c.1377_1380del	XP_016868693.1:p.Arg460ThrfsTer4
XM_017013205.2:c.1395_1398del	XP_016868694.1:p.Arg466ThrfsTer4
XM_017013206.1:c.1308_1311del	XP_016868695.1:p.Arg437ThrfsTer4
XM_017013207.2:c.1305_1308del	XP_016868696.1:p.Arg436ThrfsTer4
XM_017013208.2:c.1305_1308del	XP_016868697.1:p.Arg436ThrfsTer4
XM_017013210.2:c.1287_1290del	XP_016868699.1:p.Arg430ThrfsTer4
XM_017013211.2:c.1245_1248del	XP_016868700.1:p.Arg416ThrfsTer4
XM_017013212.2:c.1209_1212del	XP_016868701.1:p.Arg404ThrfsTer4
XM_017013213.1:c.957_960del	XP_016868702.1:p.Arg320ThrfsTer4
NM_000503.6:c.1308_1311del MANE Select	NP_000494.2:p.Arg437ThrfsTer4
NM_001288574.2:c.1290_1293del	NP_001275503.1:p.Arg431ThrfsTer4
NM_001288575.2:c.942_945del	NP_001275504.1:p.Arg315ThrfsTer4
NM_001370333.1:c.1395_1398del	NP_001357262.1:p.Arg466ThrfsTer4
NM_001370334.1:c.1308_1311del	NP_001357263.1:p.Arg437ThrfsTer4
NM_001370335.1:c.1308_1311del	NP_001357264.1:p.Arg437ThrfsTer4
NM_001370336.1:c.1287_1290del	NP_001357265.1:p.Arg430ThrfsTer4
NM_172058.4:c.1308_1311del	NP_742055.1:p.Arg437ThrfsTer4
NM_172059.5:c.1290_1293del	NP_742056.2:p.Arg431ThrfsTer4