Canonical Allele Identifier: CA254281
Gene: EYA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.71215479_71215485del , CM000670.2:g.71215479_71215485del GRCh38
NC_000008.10:g.72127714_72127720del , CM000670.1:g.72127714_72127720del GRCh37
NC_000008.9:g.72290268_72290274del NCBI36
NG_011735.2:g.151750_151756del
NG_011735.3:g.337648_337654del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340726.8:c.1501_1507del MANE Select ENSP00000342626.3:p.Thr501LeufsTer15
ENST00000388741.7:c.1399_1405del ENSP00000373393.2:p.Thr467LeufsTer15
ENST00000419131.6:c.1396_1402del ENSP00000410176.1:p.Thr466LeufsTer15
ENST00000465115.6:c.*780_*786del ENSP00000428391.1:n.*780_*786del
ENST00000496494.6:n.1964_1970del
ENST00000642391.1:c.*1178_*1184del ENSP00000496700.1:n.*1178_*1184del
ENST00000643681.1:c.1588_1594del ENSP00000495390.1:p.Thr530LeufsTer15
ENST00000644229.1:c.1483_1489del ENSP00000494568.1:p.Thr495LeufsTer15
ENST00000644424.1:n.571_577del
ENST00000644712.1:c.1480_1486del ENSP00000496188.1:p.Thr494LeufsTer15
ENST00000645793.1:c.1501_1507del ENSP00000496255.1:p.Thr501LeufsTer15
ENST00000647540.1:c.1501_1507del ENSP00000494438.1:p.Thr501LeufsTer15
ENST00000303824.11:c.1483_1489del ENSP00000303221.7:p.Thr495LeufsTer15
ENST00000340726.7:c.1501_1507del ENSP00000342626.3:p.Thr501LeufsTer15
ENST00000388740.4:c.1402_1408del ENSP00000373392.3:p.Thr468LeufsTer15
ENST00000388741.6:c.1399_1405del ENSP00000373393.2:p.Thr467LeufsTer15
ENST00000388742.8:c.1501_1507del ENSP00000373394.4:p.Thr501LeufsTer15
ENST00000388743.6:c.1498_1504del ENSP00000373395.2:p.Thr500LeufsTer15
ENST00000419131.5:c.1396_1402del ENSP00000410176.1:p.Thr466LeufsTer15
ENST00000465115.5:c.*780_*786del ENSP00000428391.1:n.*780_*786del
ENST00000496494.5:n.1996_2002del
NM_000503.5:c.1501_1507del NP_000494.2:p.Thr501LeufsTer15
NM_001288574.1:c.1483_1489del NP_001275503.1:p.Thr495LeufsTer15
NM_001288575.1:c.1135_1141del NP_001275504.1:p.Thr379LeufsTer15
NM_172058.3:c.1501_1507del NP_742055.1:p.Thr501LeufsTer15
NM_172059.3:c.1396_1402del NP_742056.1:p.Thr466LeufsTer15
NM_172060.3:c.1402_1408del NP_742057.1:p.Thr468LeufsTer15
XM_011517481.1:c.1573_1579del XP_011515783.1:p.Thr525LeufsTer15
XM_011517482.1:c.1588_1594del XP_011515784.1:p.Thr530LeufsTer15
XM_011517483.1:c.1498_1504del XP_011515785.1:p.Thr500LeufsTer15
XM_011517484.1:c.1486_1492del XP_011515786.1:p.Thr496LeufsTer15
XM_011517485.1:c.1501_1507del XP_011515787.1:p.Thr501LeufsTer15
XM_011517486.1:c.1501_1507del XP_011515788.1:p.Thr501LeufsTer15
XM_011517487.1:c.1501_1507del XP_011515789.1:p.Thr501LeufsTer15
XM_011517488.1:c.1498_1504del XP_011515790.1:p.Thr500LeufsTer15
XM_011517489.1:c.1438_1444del XP_011515791.1:p.Thr480LeufsTer15
XM_011517490.1:c.1402_1408del XP_011515792.1:p.Thr468LeufsTer15
XM_011517491.1:c.1402_1408del XP_011515793.1:p.Thr468LeufsTer15
XM_011517492.1:c.1150_1156del XP_011515794.1:p.Thr384LeufsTer15
NM_172059.4:c.1483_1489del NP_742056.2:p.Thr495LeufsTer15
XM_011517483.2:c.1498_1504del XP_011515785.1:p.Thr500LeufsTer15
XM_011517484.3:c.1573_1579del XP_011515786.2:p.Thr525LeufsTer15
XM_017013201.1:c.1588_1594del XP_016868690.1:p.Thr530LeufsTer15
XM_017013202.1:c.1588_1594del XP_016868691.1:p.Thr530LeufsTer15
XM_017013203.2:c.1585_1591del XP_016868692.1:p.Thr529LeufsTer15
XM_017013204.2:c.1570_1576del XP_016868693.1:p.Thr524LeufsTer15
XM_017013205.2:c.1588_1594del XP_016868694.1:p.Thr530LeufsTer15
XM_017013206.1:c.1501_1507del XP_016868695.1:p.Thr501LeufsTer15
XM_017013207.2:c.1498_1504del XP_016868696.1:p.Thr500LeufsTer15
XM_017013208.2:c.1498_1504del XP_016868697.1:p.Thr500LeufsTer15
XM_017013210.2:c.1480_1486del XP_016868699.1:p.Thr494LeufsTer15
XM_017013211.2:c.1438_1444del XP_016868700.1:p.Thr480LeufsTer15
XM_017013212.2:c.1402_1408del XP_016868701.1:p.Thr468LeufsTer15
XM_017013213.1:c.1150_1156del XP_016868702.1:p.Thr384LeufsTer15
NM_000503.6:c.1501_1507del MANE Select NP_000494.2:p.Thr501LeufsTer15
NM_001288574.2:c.1483_1489del NP_001275503.1:p.Thr495LeufsTer15
NM_001288575.2:c.1135_1141del NP_001275504.1:p.Thr379LeufsTer15
NM_001370333.1:c.1588_1594del NP_001357262.1:p.Thr530LeufsTer15
NM_001370334.1:c.1501_1507del NP_001357263.1:p.Thr501LeufsTer15
NM_001370335.1:c.1501_1507del NP_001357264.1:p.Thr501LeufsTer15
NM_001370336.1:c.1480_1486del NP_001357265.1:p.Thr494LeufsTer15
NM_172058.4:c.1501_1507del NP_742055.1:p.Thr501LeufsTer15
NM_172059.5:c.1483_1489del NP_742056.2:p.Thr495LeufsTer15