Canonical Allele Identifier: CA2695209876
Gene: EYA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.71216797del , CM000670.2:g.71216797del GRCh38
NC_000008.10:g.72129032del , CM000670.1:g.72129032del GRCh37
NC_000008.9:g.72291586del NCBI36
NG_011735.2:g.150436del
NG_011735.3:g.336334del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340726.8:c.1255del MANE Select ENSP00000342626.3:p.Cys419ValfsTer13
ENST00000388741.7:c.1153del ENSP00000373393.2:p.Cys385ValfsTer13
ENST00000419131.6:c.1150del ENSP00000410176.1:p.Cys384ValfsTer13
ENST00000465115.6:c.*534del ENSP00000428391.1:n.*534del
ENST00000493349.2:c.645del
ENST00000496494.6:n.1718del
ENST00000642391.1:c.*932del ENSP00000496700.1:n.*932del
ENST00000643681.1:c.1342del ENSP00000495390.1:p.Cys448ValfsTer13
ENST00000644229.1:c.1237del ENSP00000494568.1:p.Cys413ValfsTer13
ENST00000644424.1:n.325del
ENST00000644712.1:c.1234del ENSP00000496188.1:p.Cys412ValfsTer13
ENST00000645793.1:c.1255del ENSP00000496255.1:p.Cys419ValfsTer13
ENST00000647540.1:c.1255del ENSP00000494438.1:p.Cys419ValfsTer13
ENST00000303824.11:c.1237del ENSP00000303221.7:p.Cys413ValfsTer13
ENST00000340726.7:c.1255del ENSP00000342626.3:p.Cys419ValfsTer13
ENST00000388740.4:c.1156del ENSP00000373392.3:p.Cys386ValfsTer13
ENST00000388741.6:c.1153del ENSP00000373393.2:p.Cys385ValfsTer13
ENST00000388742.8:c.1255del ENSP00000373394.4:p.Cys419ValfsTer13
ENST00000388743.6:c.1252del ENSP00000373395.2:p.Cys418ValfsTer13
ENST00000419131.5:c.1150del ENSP00000410176.1:p.Cys384ValfsTer13
ENST00000465115.5:c.*534del ENSP00000428391.1:n.*534del
ENST00000493349.1:c.*200del ENSP00000428517.1:n.*200del
ENST00000496494.5:n.1750del
NM_000503.5:c.1255del NP_000494.2:p.Cys419ValfsTer13
NM_001288574.1:c.1237del NP_001275503.1:p.Cys413ValfsTer13
NM_001288575.1:c.889del NP_001275504.1:p.Cys297ValfsTer13
NM_172058.3:c.1255del NP_742055.1:p.Cys419ValfsTer13
NM_172059.3:c.1150del NP_742056.1:p.Cys384ValfsTer13
NM_172060.3:c.1156del NP_742057.1:p.Cys386ValfsTer13
XM_011517481.1:c.1327del XP_011515783.1:p.Cys443ValfsTer13
XM_011517482.1:c.1342del XP_011515784.1:p.Cys448ValfsTer13
XM_011517483.1:c.1252del XP_011515785.1:p.Cys418ValfsTer13
XM_011517484.1:c.1240del XP_011515786.1:p.Cys414ValfsTer13
XM_011517485.1:c.1255del XP_011515787.1:p.Cys419ValfsTer13
XM_011517486.1:c.1255del XP_011515788.1:p.Cys419ValfsTer13
XM_011517487.1:c.1255del XP_011515789.1:p.Cys419ValfsTer13
XM_011517488.1:c.1252del XP_011515790.1:p.Cys418ValfsTer13
XM_011517489.1:c.1192del XP_011515791.1:p.Cys398ValfsTer13
XM_011517490.1:c.1156del XP_011515792.1:p.Cys386ValfsTer13
XM_011517491.1:c.1156del XP_011515793.1:p.Cys386ValfsTer13
XM_011517492.1:c.904del XP_011515794.1:p.Cys302ValfsTer13
NM_172059.4:c.1237del NP_742056.2:p.Cys413ValfsTer13
XM_011517483.2:c.1252del XP_011515785.1:p.Cys418ValfsTer13
XM_011517484.3:c.1327del XP_011515786.2:p.Cys443ValfsTer13
XM_017013201.1:c.1342del XP_016868690.1:p.Cys448ValfsTer13
XM_017013202.1:c.1342del XP_016868691.1:p.Cys448ValfsTer13
XM_017013203.2:c.1339del XP_016868692.1:p.Cys447ValfsTer13
XM_017013204.2:c.1324del XP_016868693.1:p.Cys442ValfsTer13
XM_017013205.2:c.1342del XP_016868694.1:p.Cys448ValfsTer13
XM_017013206.1:c.1255del XP_016868695.1:p.Cys419ValfsTer13
XM_017013207.2:c.1252del XP_016868696.1:p.Cys418ValfsTer13
XM_017013208.2:c.1252del XP_016868697.1:p.Cys418ValfsTer13
XM_017013210.2:c.1234del XP_016868699.1:p.Cys412ValfsTer13
XM_017013211.2:c.1192del XP_016868700.1:p.Cys398ValfsTer13
XM_017013212.2:c.1156del XP_016868701.1:p.Cys386ValfsTer13
XM_017013213.1:c.904del XP_016868702.1:p.Cys302ValfsTer13
NM_000503.6:c.1255del MANE Select NP_000494.2:p.Cys419ValfsTer13
NM_001288574.2:c.1237del NP_001275503.1:p.Cys413ValfsTer13
NM_001288575.2:c.889del NP_001275504.1:p.Cys297ValfsTer13
NM_001370333.1:c.1342del NP_001357262.1:p.Cys448ValfsTer13
NM_001370334.1:c.1255del NP_001357263.1:p.Cys419ValfsTer13
NM_001370335.1:c.1255del NP_001357264.1:p.Cys419ValfsTer13
NM_001370336.1:c.1234del NP_001357265.1:p.Cys412ValfsTer13
NM_172058.4:c.1255del NP_742055.1:p.Cys419ValfsTer13
NM_172059.5:c.1237del NP_742056.2:p.Cys413ValfsTer13