Canonical Allele Identifier: CA2580617176

Gene: EYA1

Linked Data

• ClinVar Variation Id: 1391097
• ClinVar RCV Id: RCV001881858
• dbSNP Id: rs2128835431

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71211238_71211239del , CM000670.2:g.71211238_71211239del	GRCh38
NC_000008.10:g.72123473_72123474del , CM000670.1:g.72123473_72123474del	GRCh37
NC_000008.9:g.72286027_72286028del	NCBI36
NG_011735.2:g.155998_155999del
NG_011735.3:g.341896_341897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1619_1620del MANE Select	ENSP00000342626.3:p.Arg540AsnfsTer?
ENST00000388741.7:c.1517_1518del	ENSP00000373393.2:p.Arg506AsnfsTer?
ENST00000419131.6:c.1514_1515del	ENSP00000410176.1:p.Arg505AsnfsTer?
ENST00000465115.6:c.*898_*899del	ENSP00000428391.1:n.*898_*899del
ENST00000496494.6:n.2082_2083del
ENST00000642391.1:c.*1296_*1297del	ENSP00000496700.1:n.*1296_*1297del
ENST00000643681.1:c.1706_1707del	ENSP00000495390.1:p.Arg569AsnfsTer?
ENST00000644229.1:c.1601_1602del	ENSP00000494568.1:p.Arg534AsnfsTer?
ENST00000644424.1:n.689_690del
ENST00000644712.1:c.1598_1599del	ENSP00000496188.1:p.Arg533AsnfsTer?
ENST00000645793.1:c.1619_1620del	ENSP00000496255.1:p.Arg540AsnfsTer?
ENST00000647540.1:c.1619_1620del	ENSP00000494438.1:p.Arg540AsnfsTer?
ENST00000303824.11:c.1601_1602del	ENSP00000303221.7:p.Arg534AsnfsTer?
ENST00000340726.7:c.1619_1620del	ENSP00000342626.3:p.Arg540AsnfsTer?
ENST00000388740.4:c.1520_1521del	ENSP00000373392.3:p.Arg507AsnfsTer?
ENST00000388741.6:c.1517_1518del	ENSP00000373393.2:p.Arg506AsnfsTer?
ENST00000388742.8:c.1619_1620del	ENSP00000373394.4:p.Arg540AsnfsTer?
ENST00000388743.6:c.1616_1617del	ENSP00000373395.2:p.Arg539AsnfsTer?
ENST00000419131.5:c.1514_1515del	ENSP00000410176.1:p.Arg505AsnfsTer?
ENST00000465115.5:c.*898_*899del	ENSP00000428391.1:n.*898_*899del
ENST00000496494.5:n.2114_2115del
NM_000503.5:c.1619_1620del	NP_000494.2:p.Arg540AsnfsTer?
NM_001288574.1:c.1601_1602del	NP_001275503.1:p.Arg534AsnfsTer?
NM_001288575.1:c.1253_1254del	NP_001275504.1:p.Arg418AsnfsTer?
NM_172058.3:c.1619_1620del	NP_742055.1:p.Arg540AsnfsTer?
NM_172059.3:c.1514_1515del	NP_742056.1:p.Arg505AsnfsTer?
NM_172060.3:c.1520_1521del	NP_742057.1:p.Arg507AsnfsTer?
XM_011517481.1:c.1691_1692del	XP_011515783.1:p.Arg564AsnfsTer?
XM_011517482.1:c.1706_1707del	XP_011515784.1:p.Arg569AsnfsTer?
XM_011517483.1:c.1616_1617del	XP_011515785.1:p.Arg539AsnfsTer?
XM_011517484.1:c.1604_1605del	XP_011515786.1:p.Arg535AsnfsTer?
XM_011517485.1:c.1619_1620del	XP_011515787.1:p.Arg540AsnfsTer?
XM_011517486.1:c.1619_1620del	XP_011515788.1:p.Arg540AsnfsTer?
XM_011517487.1:c.1619_1620del	XP_011515789.1:p.Arg540AsnfsTer?
XM_011517488.1:c.1616_1617del	XP_011515790.1:p.Arg539AsnfsTer?
XM_011517489.1:c.1556_1557del	XP_011515791.1:p.Arg519AsnfsTer?
XM_011517490.1:c.1520_1521del	XP_011515792.1:p.Arg507AsnfsTer?
XM_011517491.1:c.1520_1521del	XP_011515793.1:p.Arg507AsnfsTer?
XM_011517492.1:c.1268_1269del	XP_011515794.1:p.Arg423AsnfsTer?
NM_172059.4:c.1601_1602del	NP_742056.2:p.Arg534AsnfsTer?
XM_011517483.2:c.1616_1617del	XP_011515785.1:p.Arg539AsnfsTer?
XM_011517484.3:c.1691_1692del	XP_011515786.2:p.Arg564AsnfsTer?
XM_017013201.1:c.1706_1707del	XP_016868690.1:p.Arg569AsnfsTer?
XM_017013202.1:c.1706_1707del	XP_016868691.1:p.Arg569AsnfsTer?
XM_017013203.2:c.1703_1704del	XP_016868692.1:p.Arg568AsnfsTer?
XM_017013204.2:c.1688_1689del	XP_016868693.1:p.Arg563AsnfsTer?
XM_017013205.2:c.1706_1707del	XP_016868694.1:p.Arg569AsnfsTer29
XM_017013206.1:c.1619_1620del	XP_016868695.1:p.Arg540AsnfsTer?
XM_017013207.2:c.1616_1617del	XP_016868696.1:p.Arg539AsnfsTer?
XM_017013208.2:c.1616_1617del	XP_016868697.1:p.Arg539AsnfsTer?
XM_017013210.2:c.1598_1599del	XP_016868699.1:p.Arg533AsnfsTer?
XM_017013211.2:c.1556_1557del	XP_016868700.1:p.Arg519AsnfsTer?
XM_017013212.2:c.1520_1521del	XP_016868701.1:p.Arg507AsnfsTer?
XM_017013213.1:c.1268_1269del	XP_016868702.1:p.Arg423AsnfsTer?
NM_000503.6:c.1619_1620del MANE Select	NP_000494.2:p.Arg540AsnfsTer?
NM_001288574.2:c.1601_1602del	NP_001275503.1:p.Arg534AsnfsTer?
NM_001288575.2:c.1253_1254del	NP_001275504.1:p.Arg418AsnfsTer?
NM_001370333.1:c.1706_1707del	NP_001357262.1:p.Arg569AsnfsTer?
NM_001370334.1:c.1619_1620del	NP_001357263.1:p.Arg540AsnfsTer?
NM_001370335.1:c.1619_1620del	NP_001357264.1:p.Arg540AsnfsTer?
NM_001370336.1:c.1598_1599del	NP_001357265.1:p.Arg533AsnfsTer?
NM_172058.4:c.1619_1620del	NP_742055.1:p.Arg540AsnfsTer?
NM_172059.5:c.1601_1602del	NP_742056.2:p.Arg534AsnfsTer?