Canonical Allele Identifier: CA16618691

Gene: EYA1

Linked Data

• ClinVar Variation Id: 422377
• ClinVar RCV Id: RCV000486264
• dbSNP Id: rs1064795739
• MyVariant Identifiers: chr8:g.72111640dupA (hg19) ; chr8:g.72111639_72111640insA (hg19) ; chr8:g.71199405dupA (hg38) ; chr8:g.71199404_71199405insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71199405dup , CM000670.2:g.71199405dup	GRCh38
NC_000008.10:g.72111640dup , CM000670.1:g.72111640dup	GRCh37
NC_000008.9:g.72274194dup	NCBI36
NG_011735.2:g.167828dup
NG_011735.3:g.353726dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1714dup MANE Select	ENSP00000342626.3:p.Trp572LeufsTer?
ENST00000388741.7:c.1612dup	ENSP00000373393.2:p.Trp538LeufsTer?
ENST00000419131.6:c.1609dup	ENSP00000410176.1:p.Trp537LeufsTer?
ENST00000465115.6:c.*993dup	ENSP00000428391.1:n.*993dup
ENST00000496494.6:n.2177dup
ENST00000642391.1:c.*1391dup	ENSP00000496700.1:n.*1391dup
ENST00000643681.1:c.1801dup	ENSP00000495390.1:p.Trp601LeufsTer?
ENST00000644229.1:c.1696dup	ENSP00000494568.1:p.Trp566LeufsTer?
ENST00000644424.1:n.784dup
ENST00000644712.1:c.1693dup	ENSP00000496188.1:p.Trp565LeufsTer?
ENST00000645793.1:c.1714dup	ENSP00000496255.1:p.Trp572LeufsTer?
ENST00000647540.1:c.1714dup	ENSP00000494438.1:p.Trp572LeufsTer?
ENST00000303824.11:c.1696dup	ENSP00000303221.7:p.Trp566LeufsTer?
ENST00000340726.7:c.1714dup	ENSP00000342626.3:p.Trp572LeufsTer?
ENST00000388740.4:c.1615dup	ENSP00000373392.3:p.Trp539LeufsTer?
ENST00000388741.6:c.1612dup	ENSP00000373393.2:p.Trp538LeufsTer?
ENST00000388742.8:c.1714dup	ENSP00000373394.4:p.Trp572LeufsTer?
ENST00000388743.6:c.1711dup	ENSP00000373395.2:p.Trp571LeufsTer?
ENST00000419131.5:c.1609dup	ENSP00000410176.1:p.Trp537LeufsTer?
ENST00000465115.5:c.*993dup	ENSP00000428391.1:n.*993dup
ENST00000496494.5:n.2209dup
NM_000503.5:c.1714dup	NP_000494.2:p.Trp572LeufsTer?
NM_001288574.1:c.1696dup	NP_001275503.1:p.Trp566LeufsTer?
NM_001288575.1:c.1348dup	NP_001275504.1:p.Trp450LeufsTer?
NM_172058.3:c.1714dup	NP_742055.1:p.Trp572LeufsTer?
NM_172059.3:c.1609dup	NP_742056.1:p.Trp537LeufsTer?
NM_172060.3:c.1615dup	NP_742057.1:p.Trp539LeufsTer?
XM_011517481.1:c.1787dup	XP_011515783.1:p.Glu597GlyfsTer?
XM_011517482.1:c.1802dup	XP_011515784.1:p.Glu602GlyfsTer?
XM_011517483.1:c.1711dup	XP_011515785.1:p.Trp571LeufsTer?
XM_011517484.1:c.1699dup	XP_011515786.1:p.Trp567LeufsTer?
XM_011517485.1:c.1715dup	XP_011515787.1:p.Glu573GlyfsTer?
XM_011517486.1:c.1715dup	XP_011515788.1:p.Glu573GlyfsTer?
XM_011517487.1:c.1715dup	XP_011515789.1:p.Glu573GlyfsTer?
XM_011517488.1:c.1712dup	XP_011515790.1:p.Glu572GlyfsTer?
XM_011517489.1:c.1652dup	XP_011515791.1:p.Glu552GlyfsTer?
XM_011517490.1:c.1616dup	XP_011515792.1:p.Glu540GlyfsTer?
XM_011517491.1:c.1616dup	XP_011515793.1:p.Glu540GlyfsTer?
XM_011517492.1:c.1364dup	XP_011515794.1:p.Glu456GlyfsTer?
NM_172059.4:c.1696dup	NP_742056.2:p.Trp566LeufsTer?
XM_011517483.2:c.1711dup	XP_011515785.1:p.Trp571LeufsTer?
XM_011517484.3:c.1786dup	XP_011515786.2:p.Trp596LeufsTer?
XM_017013201.1:c.1801dup	XP_016868690.1:p.Trp601LeufsTer?
XM_017013202.1:c.1801dup	XP_016868691.1:p.Trp601LeufsTer?
XM_017013203.2:c.1798dup	XP_016868692.1:p.Trp600LeufsTer?
XM_017013204.2:c.1783dup	XP_016868693.1:p.Trp595LeufsTer?
XM_017013206.1:c.1714dup	XP_016868695.1:p.Trp572LeufsTer?
XM_017013207.2:c.1711dup	XP_016868696.1:p.Trp571LeufsTer?
XM_017013208.2:c.1711dup	XP_016868697.1:p.Trp571LeufsTer?
XM_017013210.2:c.1693dup	XP_016868699.1:p.Trp565LeufsTer?
XM_017013211.2:c.1651dup	XP_016868700.1:p.Trp551LeufsTer?
XM_017013212.2:c.1615dup	XP_016868701.1:p.Trp539LeufsTer?
XM_017013213.1:c.1363dup	XP_016868702.1:p.Trp455LeufsTer?
XR_001745954.1:n.5008+60dup
NM_000503.6:c.1714dup MANE Select	NP_000494.2:p.Trp572LeufsTer?
NM_001288574.2:c.1696dup	NP_001275503.1:p.Trp566LeufsTer?
NM_001288575.2:c.1348dup	NP_001275504.1:p.Trp450LeufsTer?
NM_001370333.1:c.1801dup	NP_001357262.1:p.Trp601LeufsTer?
NM_001370334.1:c.1714dup	NP_001357263.1:p.Trp572LeufsTer?
NM_001370335.1:c.1714dup	NP_001357264.1:p.Trp572LeufsTer?
NM_001370336.1:c.1693dup	NP_001357265.1:p.Trp565LeufsTer?
NM_172058.4:c.1714dup	NP_742055.1:p.Trp572LeufsTer?
NM_172059.5:c.1696dup	NP_742056.2:p.Trp566LeufsTer?