Canonical Allele Identifier: CA2697549976

Gene: EYA1

Linked Data

• ClinVar Variation Id: 2727976
• ClinVar RCV Id: RCV003595469

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71271803dup , CM000670.2:g.71271803dup	GRCh38
NC_000008.10:g.72184038dup , CM000670.1:g.72184038dup	GRCh37
NC_000008.9:g.72346592dup	NCBI36
NG_011735.2:g.95431dup
NG_011735.3:g.281329dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.922dup MANE Select	ENSP00000342626.3:p.Arg308ProfsTer5
ENST00000388741.7:c.820dup	ENSP00000373393.2:p.Arg274ProfsTer5
ENST00000419131.6:c.907dup	ENSP00000410176.1:p.Arg303ProfsTer5
ENST00000465115.6:c.*201dup	ENSP00000428391.1:n.*201dup
ENST00000493349.2:c.158dup
ENST00000496494.6:n.1385dup
ENST00000642391.1:c.*689dup	ENSP00000496700.1:n.*689dup
ENST00000643681.1:c.1009dup	ENSP00000495390.1:p.Arg337ProfsTer5
ENST00000644229.1:c.994dup	ENSP00000494568.1:p.Arg332ProfsTer5
ENST00000644712.1:c.991dup	ENSP00000496188.1:p.Arg331ProfsTer5
ENST00000645793.1:c.922dup	ENSP00000496255.1:p.Arg308ProfsTer5
ENST00000647540.1:c.922dup	ENSP00000494438.1:p.Arg308ProfsTer5
ENST00000303824.11:c.904dup	ENSP00000303221.7:p.Arg302ProfsTer5
ENST00000340726.7:c.922dup	ENSP00000342626.3:p.Arg308ProfsTer5
ENST00000388740.4:c.823dup	ENSP00000373392.3:p.Arg275ProfsTer5
ENST00000388741.6:c.820dup	ENSP00000373393.2:p.Arg274ProfsTer5
ENST00000388742.8:c.922dup	ENSP00000373394.4:p.Arg308ProfsTer5
ENST00000388743.6:c.919dup	ENSP00000373395.2:p.Arg307ProfsTer5
ENST00000419131.5:c.907dup	ENSP00000410176.1:p.Arg303ProfsTer5
ENST00000465115.5:c.*201dup	ENSP00000428391.1:n.*201dup
ENST00000493349.1:c.-162dup	ENSP00000428517.1:n.-162dup
ENST00000496494.5:n.1417dup
NM_000503.5:c.922dup	NP_000494.2:p.Arg308ProfsTer5
NM_001288574.1:c.904dup	NP_001275503.1:p.Arg302ProfsTer5
NM_001288575.1:c.556dup	NP_001275504.1:p.Arg186ProfsTer5
NM_172058.3:c.922dup	NP_742055.1:p.Arg308ProfsTer5
NM_172059.3:c.907dup	NP_742056.1:p.Arg303ProfsTer5
NM_172060.3:c.823dup	NP_742057.1:p.Arg275ProfsTer5
XM_011517481.1:c.994dup	XP_011515783.1:p.Arg332ProfsTer5
XM_011517482.1:c.1009dup	XP_011515784.1:p.Arg337ProfsTer5
XM_011517483.1:c.919dup	XP_011515785.1:p.Arg307ProfsTer5
XM_011517484.1:c.907dup	XP_011515786.1:p.Arg303ProfsTer5
XM_011517485.1:c.922dup	XP_011515787.1:p.Arg308ProfsTer5
XM_011517486.1:c.922dup	XP_011515788.1:p.Arg308ProfsTer5
XM_011517487.1:c.922dup	XP_011515789.1:p.Arg308ProfsTer5
XM_011517488.1:c.919dup	XP_011515790.1:p.Arg307ProfsTer5
XM_011517489.1:c.859dup	XP_011515791.1:p.Arg287ProfsTer5
XM_011517490.1:c.823dup	XP_011515792.1:p.Arg275ProfsTer5
XM_011517491.1:c.823dup	XP_011515793.1:p.Arg275ProfsTer5
XM_011517492.1:c.571dup	XP_011515794.1:p.Arg191ProfsTer5
NM_172059.4:c.994dup	NP_742056.2:p.Arg332ProfsTer5
XM_011517483.2:c.919dup	XP_011515785.1:p.Arg307ProfsTer5
XM_011517484.3:c.994dup	XP_011515786.2:p.Arg332ProfsTer5
XM_017013201.1:c.1009dup	XP_016868690.1:p.Arg337ProfsTer5
XM_017013202.1:c.1009dup	XP_016868691.1:p.Arg337ProfsTer5
XM_017013203.2:c.1006dup	XP_016868692.1:p.Arg336ProfsTer5
XM_017013204.2:c.991dup	XP_016868693.1:p.Arg331ProfsTer5
XM_017013205.2:c.1009dup	XP_016868694.1:p.Arg337ProfsTer5
XM_017013206.1:c.922dup	XP_016868695.1:p.Arg308ProfsTer5
XM_017013207.2:c.1009dup	XP_016868696.1:p.Arg337ProfsTer5
XM_017013208.2:c.919dup	XP_016868697.1:p.Arg307ProfsTer5
XM_017013210.2:c.991dup	XP_016868699.1:p.Arg331ProfsTer5
XM_017013211.2:c.859dup	XP_016868700.1:p.Arg287ProfsTer5
XM_017013212.2:c.823dup	XP_016868701.1:p.Arg275ProfsTer5
XM_017013213.1:c.571dup	XP_016868702.1:p.Arg191ProfsTer5
NM_000503.6:c.922dup MANE Select	NP_000494.2:p.Arg308ProfsTer5
NM_001288574.2:c.904dup	NP_001275503.1:p.Arg302ProfsTer5
NM_001288575.2:c.556dup	NP_001275504.1:p.Arg186ProfsTer5
NM_001370333.1:c.1009dup	NP_001357262.1:p.Arg337ProfsTer5
NM_001370334.1:c.922dup	NP_001357263.1:p.Arg308ProfsTer5
NM_001370335.1:c.922dup	NP_001357264.1:p.Arg308ProfsTer5
NM_001370336.1:c.991dup	NP_001357265.1:p.Arg331ProfsTer5
NM_172058.4:c.922dup	NP_742055.1:p.Arg308ProfsTer5
NM_172059.5:c.994dup	NP_742056.2:p.Arg332ProfsTer5