Canonical Allele Identifier: CA2695209814

Gene: EYA1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71211212_71211216del , CM000670.2:g.71211212_71211216del	GRCh38
NC_000008.10:g.72123447_72123451del , CM000670.1:g.72123447_72123451del	GRCh37
NC_000008.9:g.72286001_72286005del	NCBI36
NG_011735.2:g.156020_156024del
NG_011735.3:g.341918_341922del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.1641_1645del MANE Select	ENSP00000342626.3:p.Arg547SerfsTer?
ENST00000388741.7:c.1539_1543del	ENSP00000373393.2:p.Arg513SerfsTer?
ENST00000419131.6:c.1536_1540del	ENSP00000410176.1:p.Arg512SerfsTer?
ENST00000465115.6:c.*920_*924del	ENSP00000428391.1:n.*920_*924del
ENST00000496494.6:n.2104_2108del
ENST00000642391.1:c.*1318_*1322del	ENSP00000496700.1:n.*1318_*1322del
ENST00000643681.1:c.1728_1732del	ENSP00000495390.1:p.Arg576SerfsTer?
ENST00000644229.1:c.1623_1627del	ENSP00000494568.1:p.Arg541SerfsTer?
ENST00000644424.1:n.711_715del
ENST00000644712.1:c.1620_1624del	ENSP00000496188.1:p.Arg540SerfsTer?
ENST00000645793.1:c.1641_1645del	ENSP00000496255.1:p.Arg547SerfsTer?
ENST00000647540.1:c.1641_1645del	ENSP00000494438.1:p.Arg547SerfsTer?
ENST00000303824.11:c.1623_1627del	ENSP00000303221.7:p.Arg541SerfsTer?
ENST00000340726.7:c.1641_1645del	ENSP00000342626.3:p.Arg547SerfsTer?
ENST00000388740.4:c.1542_1546del	ENSP00000373392.3:p.Arg514SerfsTer?
ENST00000388741.6:c.1539_1543del	ENSP00000373393.2:p.Arg513SerfsTer?
ENST00000388742.8:c.1641_1645del	ENSP00000373394.4:p.Arg547SerfsTer?
ENST00000388743.6:c.1638_1642del	ENSP00000373395.2:p.Arg546SerfsTer?
ENST00000419131.5:c.1536_1540del	ENSP00000410176.1:p.Arg512SerfsTer?
ENST00000465115.5:c.*920_*924del	ENSP00000428391.1:n.*920_*924del
ENST00000496494.5:n.2136_2140del
NM_000503.5:c.1641_1645del	NP_000494.2:p.Arg547SerfsTer?
NM_001288574.1:c.1623_1627del	NP_001275503.1:p.Arg541SerfsTer?
NM_001288575.1:c.1275_1279del	NP_001275504.1:p.Arg425SerfsTer?
NM_172058.3:c.1641_1645del	NP_742055.1:p.Arg547SerfsTer?
NM_172059.3:c.1536_1540del	NP_742056.1:p.Arg512SerfsTer?
NM_172060.3:c.1542_1546del	NP_742057.1:p.Arg514SerfsTer?
XM_011517481.1:c.1713_1717del	XP_011515783.1:p.Arg571SerfsTer?
XM_011517482.1:c.1728_1732del	XP_011515784.1:p.Arg576SerfsTer?
XM_011517483.1:c.1638_1642del	XP_011515785.1:p.Arg546SerfsTer?
XM_011517484.1:c.1626_1630del	XP_011515786.1:p.Arg542SerfsTer?
XM_011517485.1:c.1641_1645del	XP_011515787.1:p.Arg547SerfsTer?
XM_011517486.1:c.1641_1645del	XP_011515788.1:p.Arg547SerfsTer?
XM_011517487.1:c.1641_1645del	XP_011515789.1:p.Arg547SerfsTer?
XM_011517488.1:c.1638_1642del	XP_011515790.1:p.Arg546SerfsTer?
XM_011517489.1:c.1578_1582del	XP_011515791.1:p.Arg526SerfsTer?
XM_011517490.1:c.1542_1546del	XP_011515792.1:p.Arg514SerfsTer?
XM_011517491.1:c.1542_1546del	XP_011515793.1:p.Arg514SerfsTer?
XM_011517492.1:c.1290_1294del	XP_011515794.1:p.Arg430SerfsTer?
NM_172059.4:c.1623_1627del	NP_742056.2:p.Arg541SerfsTer?
XM_011517483.2:c.1638_1642del	XP_011515785.1:p.Arg546SerfsTer?
XM_011517484.3:c.1713_1717del	XP_011515786.2:p.Arg571SerfsTer?
XM_017013201.1:c.1728_1732del	XP_016868690.1:p.Arg576SerfsTer?
XM_017013202.1:c.1728_1732del	XP_016868691.1:p.Arg576SerfsTer?
XM_017013203.2:c.1725_1729del	XP_016868692.1:p.Arg575SerfsTer?
XM_017013204.2:c.1710_1714del	XP_016868693.1:p.Arg570SerfsTer?
XM_017013205.2:c.1728_1732del	XP_016868694.1:p.Arg576SerfsTer21
XM_017013206.1:c.1641_1645del	XP_016868695.1:p.Arg547SerfsTer?
XM_017013207.2:c.1638_1642del	XP_016868696.1:p.Arg546SerfsTer?
XM_017013208.2:c.1638_1642del	XP_016868697.1:p.Arg546SerfsTer?
XM_017013210.2:c.1620_1624del	XP_016868699.1:p.Arg540SerfsTer?
XM_017013211.2:c.1578_1582del	XP_016868700.1:p.Arg526SerfsTer?
XM_017013212.2:c.1542_1546del	XP_016868701.1:p.Arg514SerfsTer?
XM_017013213.1:c.1290_1294del	XP_016868702.1:p.Arg430SerfsTer?
NM_000503.6:c.1641_1645del MANE Select	NP_000494.2:p.Arg547SerfsTer?
NM_001288574.2:c.1623_1627del	NP_001275503.1:p.Arg541SerfsTer?
NM_001288575.2:c.1275_1279del	NP_001275504.1:p.Arg425SerfsTer?
NM_001370333.1:c.1728_1732del	NP_001357262.1:p.Arg576SerfsTer?
NM_001370334.1:c.1641_1645del	NP_001357263.1:p.Arg547SerfsTer?
NM_001370335.1:c.1641_1645del	NP_001357264.1:p.Arg547SerfsTer?
NM_001370336.1:c.1620_1624del	NP_001357265.1:p.Arg540SerfsTer?
NM_172058.4:c.1641_1645del	NP_742055.1:p.Arg547SerfsTer?
NM_172059.5:c.1623_1627del	NP_742056.2:p.Arg541SerfsTer?