Canonical Allele Identifier: CA10588462
Gene: EYA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265621
ClinVar RCV Id: RCV000255636
dbSNP Id: rs886039674

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.71244630_71244631del , CM000670.2:g.71244630_71244631del GRCh38
NC_000008.10:g.72156865_72156866del , CM000670.1:g.72156865_72156866del GRCh37
NC_000008.9:g.72319419_72319420del NCBI36
NG_011735.2:g.122607_122608del
NG_011735.3:g.308505_308506del

Transcript Alleles

HGVS Amino-acid change
ENST00000340726.8:c.1117_1118del MANE Select ENSP00000342626.3:p.His373PhefsTer4
ENST00000388741.7:c.1015_1016del ENSP00000373393.2:p.His339PhefsTer4
ENST00000419131.6:c.1035+25114_1035+25115del ENSP00000410176.1:n.1035+25114_1035+25115...
ENST00000465115.6:c.*396_*397del ENSP00000428391.1:n.*396_*397del
ENST00000493349.2:c.353_354del
ENST00000496494.6:n.1580_1581del
ENST00000642391.1:c.*817+25114_*817+25115del ENSP00000496700.1:n.*817+25114_*817+25115...
ENST00000643681.1:c.1204_1205del ENSP00000495390.1:p.His402PhefsTer4
ENST00000644229.1:c.1122+25114_1122+25115del ENSP00000494568.1:n.1122+25114_1122+25115...
ENST00000644424.1:n.187_188del
ENST00000644712.1:c.1119+25114_1119+25115del ENSP00000496188.1:n.1119+25114_1119+25115...
ENST00000645793.1:c.1117_1118del ENSP00000496255.1:p.His373PhefsTer4
ENST00000647540.1:c.1117_1118del ENSP00000494438.1:p.His373PhefsTer4
ENST00000303824.11:c.1099_1100del ENSP00000303221.7:p.His367PhefsTer4
ENST00000340726.7:c.1117_1118del ENSP00000342626.3:p.His373PhefsTer4
ENST00000388740.4:c.1018_1019del ENSP00000373392.3:p.His340PhefsTer4
ENST00000388741.6:c.1015_1016del ENSP00000373393.2:p.His339PhefsTer4
ENST00000388742.8:c.1117_1118del ENSP00000373394.4:p.His373PhefsTer4
ENST00000388743.6:c.1114_1115del ENSP00000373395.2:p.His372PhefsTer4
ENST00000419131.5:c.1035+25114_1035+25115del ENSP00000410176.1:n.1035+25114_1035+25115...
ENST00000465115.5:c.*396_*397del ENSP00000428391.1:n.*396_*397del
ENST00000493349.1:c.34_35del ENSP00000428517.1:p.His12PhefsTer4
ENST00000496494.5:n.1612_1613del
NM_000503.5:c.1117_1118del NP_000494.2:p.His373PhefsTer4
NM_001288574.1:c.1099_1100del NP_001275503.1:p.His367PhefsTer4
NM_001288575.1:c.751_752del NP_001275504.1:p.His251PhefsTer4
NM_172058.3:c.1117_1118del NP_742055.1:p.His373PhefsTer4
NM_172059.3:c.1035+25114_1035+25115del NP_742056.1:n.1035+25114_1035+25115del
NM_172060.3:c.1018_1019del NP_742057.1:p.His340PhefsTer4
XM_011517481.1:c.1189_1190del XP_011515783.1:p.His397PhefsTer4
XM_011517482.1:c.1204_1205del XP_011515784.1:p.His402PhefsTer4
XM_011517483.1:c.1114_1115del XP_011515785.1:p.His372PhefsTer4
XM_011517484.1:c.1102_1103del XP_011515786.1:p.His368PhefsTer4
XM_011517485.1:c.1117_1118del XP_011515787.1:p.His373PhefsTer4
XM_011517486.1:c.1117_1118del XP_011515788.1:p.His373PhefsTer4
XM_011517487.1:c.1117_1118del XP_011515789.1:p.His373PhefsTer4
XM_011517488.1:c.1114_1115del XP_011515790.1:p.His372PhefsTer4
XM_011517489.1:c.1054_1055del XP_011515791.1:p.His352PhefsTer4
XM_011517490.1:c.1018_1019del XP_011515792.1:p.His340PhefsTer4
XM_011517491.1:c.1018_1019del XP_011515793.1:p.His340PhefsTer4
XM_011517492.1:c.766_767del XP_011515794.1:p.His256PhefsTer4
NM_172059.4:c.1122+25114_1122+25115del NP_742056.2:n.1122+25114_1122+25115del
XM_011517483.2:c.1114_1115del XP_011515785.1:p.His372PhefsTer4
XM_011517484.3:c.1189_1190del XP_011515786.2:p.His397PhefsTer4
XM_017013201.1:c.1204_1205del XP_016868690.1:p.His402PhefsTer4
XM_017013202.1:c.1204_1205del XP_016868691.1:p.His402PhefsTer4
XM_017013203.2:c.1201_1202del XP_016868692.1:p.His401PhefsTer4
XM_017013204.2:c.1186_1187del XP_016868693.1:p.His396PhefsTer4
XM_017013205.2:c.1204_1205del XP_016868694.1:p.His402PhefsTer4
XM_017013206.1:c.1117_1118del XP_016868695.1:p.His373PhefsTer4
XM_017013207.2:c.1137+25114_1137+25115del XP_016868696.1:n.1137+25114_1137+25115del...
XM_017013208.2:c.1114_1115del XP_016868697.1:p.His372PhefsTer4
XM_017013210.2:c.1119+25114_1119+25115del XP_016868699.1:n.1119+25114_1119+25115del...
XM_017013211.2:c.1054_1055del XP_016868700.1:p.His352PhefsTer4
XM_017013212.2:c.1018_1019del XP_016868701.1:p.His340PhefsTer4
XM_017013213.1:c.766_767del XP_016868702.1:p.His256PhefsTer4
NM_000503.6:c.1117_1118del MANE Select NP_000494.2:p.His373PhefsTer4
NM_001288574.2:c.1099_1100del NP_001275503.1:p.His367PhefsTer4
NM_001288575.2:c.751_752del NP_001275504.1:p.His251PhefsTer4
NM_001370333.1:c.1204_1205del NP_001357262.1:p.His402PhefsTer4
NM_001370334.1:c.1117_1118del NP_001357263.1:p.His373PhefsTer4
NM_001370335.1:c.1117_1118del NP_001357264.1:p.His373PhefsTer4
NM_001370336.1:c.1119+25114_1119+25115del NP_001357265.1:n.1119+25114_1119+25115del...
NM_172058.4:c.1117_1118del NP_742055.1:p.His373PhefsTer4
NM_172059.5:c.1122+25114_1122+25115del NP_742056.2:n.1122+25114_1122+25115del