Canonical Allele Identifier: CA2505260523

Gene: EYA1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216735_71216736insAT , CM000670.2:g.71216735_71216736insAT	GRCh38
NC_000008.10:g.72128970_72128971insAT , CM000670.1:g.72128970_72128971insAT	GRCh37
NC_000008.9:g.72291524_72291525insAT	NCBI36
NG_011735.2:g.150498_150499insTA
NG_011735.3:g.336396_336397insTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.1317_1318insTA MANE Select	ENSP00000342626.3:p.Arg440TyrfsTer3
ENST00000388741.7:c.1215_1216insTA	ENSP00000373393.2:p.Arg406TyrfsTer3
ENST00000419131.6:c.1212_1213insTA	ENSP00000410176.1:p.Arg405TyrfsTer3
ENST00000465115.6:c.*596_*597insTA	ENSP00000428391.1:n.*596_*597insTA
ENST00000493349.2:c.707_708insTA
ENST00000496494.6:n.1780_1781insTA
ENST00000642391.1:c.*994_*995insTA	ENSP00000496700.1:n.*994_*995insTA
ENST00000643681.1:c.1404_1405insTA	ENSP00000495390.1:p.Arg469TyrfsTer3
ENST00000644229.1:c.1299_1300insTA	ENSP00000494568.1:p.Arg434TyrfsTer3
ENST00000644424.1:n.387_388insTA
ENST00000644712.1:c.1296_1297insTA	ENSP00000496188.1:p.Arg433TyrfsTer3
ENST00000645793.1:c.1317_1318insTA	ENSP00000496255.1:p.Arg440TyrfsTer3
ENST00000647540.1:c.1317_1318insTA	ENSP00000494438.1:p.Arg440TyrfsTer3
ENST00000303824.11:c.1299_1300insTA	ENSP00000303221.7:p.Arg434TyrfsTer3
ENST00000340726.7:c.1317_1318insTA	ENSP00000342626.3:p.Arg440TyrfsTer3
ENST00000388740.4:c.1218_1219insTA	ENSP00000373392.3:p.Arg407TyrfsTer3
ENST00000388741.6:c.1215_1216insTA	ENSP00000373393.2:p.Arg406TyrfsTer3
ENST00000388742.8:c.1317_1318insTA	ENSP00000373394.4:p.Arg440TyrfsTer3
ENST00000388743.6:c.1314_1315insTA	ENSP00000373395.2:p.Arg439TyrfsTer3
ENST00000419131.5:c.1212_1213insTA	ENSP00000410176.1:p.Arg405TyrfsTer3
ENST00000465115.5:c.*596_*597insTA	ENSP00000428391.1:n.*596_*597insTA
ENST00000493349.1:c.*262_*263insTA	ENSP00000428517.1:n.*262_*263insTA
ENST00000496494.5:n.1812_1813insTA
NM_000503.5:c.1317_1318insTA	NP_000494.2:p.Arg440TyrfsTer3
NM_001288574.1:c.1299_1300insTA	NP_001275503.1:p.Arg434TyrfsTer3
NM_001288575.1:c.951_952insTA	NP_001275504.1:p.Arg318TyrfsTer3
NM_172058.3:c.1317_1318insTA	NP_742055.1:p.Arg440TyrfsTer3
NM_172059.3:c.1212_1213insTA	NP_742056.1:p.Arg405TyrfsTer3
NM_172060.3:c.1218_1219insTA	NP_742057.1:p.Arg407TyrfsTer3
XM_011517481.1:c.1389_1390insTA	XP_011515783.1:p.Arg464TyrfsTer3
XM_011517482.1:c.1404_1405insTA	XP_011515784.1:p.Arg469TyrfsTer3
XM_011517483.1:c.1314_1315insTA	XP_011515785.1:p.Arg439TyrfsTer3
XM_011517484.1:c.1302_1303insTA	XP_011515786.1:p.Arg435TyrfsTer3
XM_011517485.1:c.1317_1318insTA	XP_011515787.1:p.Arg440TyrfsTer3
XM_011517486.1:c.1317_1318insTA	XP_011515788.1:p.Arg440TyrfsTer3
XM_011517487.1:c.1317_1318insTA	XP_011515789.1:p.Arg440TyrfsTer3
XM_011517488.1:c.1314_1315insTA	XP_011515790.1:p.Arg439TyrfsTer3
XM_011517489.1:c.1254_1255insTA	XP_011515791.1:p.Arg419TyrfsTer3
XM_011517490.1:c.1218_1219insTA	XP_011515792.1:p.Arg407TyrfsTer3
XM_011517491.1:c.1218_1219insTA	XP_011515793.1:p.Arg407TyrfsTer3
XM_011517492.1:c.966_967insTA	XP_011515794.1:p.Arg323TyrfsTer3
NM_172059.4:c.1299_1300insTA	NP_742056.2:p.Arg434TyrfsTer3
XM_011517483.2:c.1314_1315insTA	XP_011515785.1:p.Arg439TyrfsTer3
XM_011517484.3:c.1389_1390insTA	XP_011515786.2:p.Arg464TyrfsTer3
XM_017013201.1:c.1404_1405insTA	XP_016868690.1:p.Arg469TyrfsTer3
XM_017013202.1:c.1404_1405insTA	XP_016868691.1:p.Arg469TyrfsTer3
XM_017013203.2:c.1401_1402insTA	XP_016868692.1:p.Arg468TyrfsTer3
XM_017013204.2:c.1386_1387insTA	XP_016868693.1:p.Arg463TyrfsTer3
XM_017013205.2:c.1404_1405insTA	XP_016868694.1:p.Arg469TyrfsTer3
XM_017013206.1:c.1317_1318insTA	XP_016868695.1:p.Arg440TyrfsTer3
XM_017013207.2:c.1314_1315insTA	XP_016868696.1:p.Arg439TyrfsTer3
XM_017013208.2:c.1314_1315insTA	XP_016868697.1:p.Arg439TyrfsTer3
XM_017013210.2:c.1296_1297insTA	XP_016868699.1:p.Arg433TyrfsTer3
XM_017013211.2:c.1254_1255insTA	XP_016868700.1:p.Arg419TyrfsTer3
XM_017013212.2:c.1218_1219insTA	XP_016868701.1:p.Arg407TyrfsTer3
XM_017013213.1:c.966_967insTA	XP_016868702.1:p.Arg323TyrfsTer3
NM_000503.6:c.1317_1318insTA MANE Select	NP_000494.2:p.Arg440TyrfsTer3
NM_001288574.2:c.1299_1300insTA	NP_001275503.1:p.Arg434TyrfsTer3
NM_001288575.2:c.951_952insTA	NP_001275504.1:p.Arg318TyrfsTer3
NM_001370333.1:c.1404_1405insTA	NP_001357262.1:p.Arg469TyrfsTer3
NM_001370334.1:c.1317_1318insTA	NP_001357263.1:p.Arg440TyrfsTer3
NM_001370335.1:c.1317_1318insTA	NP_001357264.1:p.Arg440TyrfsTer3
NM_001370336.1:c.1296_1297insTA	NP_001357265.1:p.Arg433TyrfsTer3
NM_172058.4:c.1317_1318insTA	NP_742055.1:p.Arg440TyrfsTer3
NM_172059.5:c.1299_1300insTA	NP_742056.2:p.Arg434TyrfsTer3