Canonical Allele Identifier: CA2580078934

Gene: EYA1

Linked Data

• ClinVar Variation Id: 1998220
• ClinVar RCV Id: RCV002810306

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216804dup , CM000670.2:g.71216804dup	GRCh38
NC_000008.10:g.72129039dup , CM000670.1:g.72129039dup	GRCh37
NC_000008.9:g.72291593dup	NCBI36
NG_011735.2:g.150429dup
NG_011735.3:g.336327dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1248dup MANE Select	ENSP00000342626.3:p.Asn417Ter
ENST00000388741.7:c.1146dup	ENSP00000373393.2:p.Asn383Ter
ENST00000419131.6:c.1143dup	ENSP00000410176.1:p.Asn382Ter
ENST00000465115.6:c.*527dup	ENSP00000428391.1:n.*527dup
ENST00000493349.2:c.638dup
ENST00000496494.6:n.1711dup
ENST00000642391.1:c.*925dup	ENSP00000496700.1:n.*925dup
ENST00000643681.1:c.1335dup	ENSP00000495390.1:p.Asn446Ter
ENST00000644229.1:c.1230dup	ENSP00000494568.1:p.Asn411Ter
ENST00000644424.1:n.318dup
ENST00000644712.1:c.1227dup	ENSP00000496188.1:p.Asn410Ter
ENST00000645793.1:c.1248dup	ENSP00000496255.1:p.Asn417Ter
ENST00000647540.1:c.1248dup	ENSP00000494438.1:p.Asn417Ter
ENST00000303824.11:c.1230dup	ENSP00000303221.7:p.Asn411Ter
ENST00000340726.7:c.1248dup	ENSP00000342626.3:p.Asn417Ter
ENST00000388740.4:c.1149dup	ENSP00000373392.3:p.Asn384Ter
ENST00000388741.6:c.1146dup	ENSP00000373393.2:p.Asn383Ter
ENST00000388742.8:c.1248dup	ENSP00000373394.4:p.Asn417Ter
ENST00000388743.6:c.1245dup	ENSP00000373395.2:p.Asn416Ter
ENST00000419131.5:c.1143dup	ENSP00000410176.1:p.Asn382Ter
ENST00000465115.5:c.*527dup	ENSP00000428391.1:n.*527dup
ENST00000493349.1:c.*193dup	ENSP00000428517.1:n.*193dup
ENST00000496494.5:n.1743dup
NM_000503.5:c.1248dup	NP_000494.2:p.Asn417Ter
NM_001288574.1:c.1230dup	NP_001275503.1:p.Asn411Ter
NM_001288575.1:c.882dup	NP_001275504.1:p.Asn295Ter
NM_172058.3:c.1248dup	NP_742055.1:p.Asn417Ter
NM_172059.3:c.1143dup	NP_742056.1:p.Asn382Ter
NM_172060.3:c.1149dup	NP_742057.1:p.Asn384Ter
XM_011517481.1:c.1320dup	XP_011515783.1:p.Asn441Ter
XM_011517482.1:c.1335dup	XP_011515784.1:p.Asn446Ter
XM_011517483.1:c.1245dup	XP_011515785.1:p.Asn416Ter
XM_011517484.1:c.1233dup	XP_011515786.1:p.Asn412Ter
XM_011517485.1:c.1248dup	XP_011515787.1:p.Asn417Ter
XM_011517486.1:c.1248dup	XP_011515788.1:p.Asn417Ter
XM_011517487.1:c.1248dup	XP_011515789.1:p.Asn417Ter
XM_011517488.1:c.1245dup	XP_011515790.1:p.Asn416Ter
XM_011517489.1:c.1185dup	XP_011515791.1:p.Asn396Ter
XM_011517490.1:c.1149dup	XP_011515792.1:p.Asn384Ter
XM_011517491.1:c.1149dup	XP_011515793.1:p.Asn384Ter
XM_011517492.1:c.897dup	XP_011515794.1:p.Asn300Ter
NM_172059.4:c.1230dup	NP_742056.2:p.Asn411Ter
XM_011517483.2:c.1245dup	XP_011515785.1:p.Asn416Ter
XM_011517484.3:c.1320dup	XP_011515786.2:p.Asn441Ter
XM_017013201.1:c.1335dup	XP_016868690.1:p.Asn446Ter
XM_017013202.1:c.1335dup	XP_016868691.1:p.Asn446Ter
XM_017013203.2:c.1332dup	XP_016868692.1:p.Asn445Ter
XM_017013204.2:c.1317dup	XP_016868693.1:p.Asn440Ter
XM_017013205.2:c.1335dup	XP_016868694.1:p.Asn446Ter
XM_017013206.1:c.1248dup	XP_016868695.1:p.Asn417Ter
XM_017013207.2:c.1245dup	XP_016868696.1:p.Asn416Ter
XM_017013208.2:c.1245dup	XP_016868697.1:p.Asn416Ter
XM_017013210.2:c.1227dup	XP_016868699.1:p.Asn410Ter
XM_017013211.2:c.1185dup	XP_016868700.1:p.Asn396Ter
XM_017013212.2:c.1149dup	XP_016868701.1:p.Asn384Ter
XM_017013213.1:c.897dup	XP_016868702.1:p.Asn300Ter
NM_000503.6:c.1248dup MANE Select	NP_000494.2:p.Asn417Ter
NM_001288574.2:c.1230dup	NP_001275503.1:p.Asn411Ter
NM_001288575.2:c.882dup	NP_001275504.1:p.Asn295Ter
NM_001370333.1:c.1335dup	NP_001357262.1:p.Asn446Ter
NM_001370334.1:c.1248dup	NP_001357263.1:p.Asn417Ter
NM_001370335.1:c.1248dup	NP_001357264.1:p.Asn417Ter
NM_001370336.1:c.1227dup	NP_001357265.1:p.Asn410Ter
NM_172058.4:c.1248dup	NP_742055.1:p.Asn417Ter
NM_172059.5:c.1230dup	NP_742056.2:p.Asn411Ter