Canonical Allele Identifier: CA461323666

Gene: EYA1

Linked Data

• gnomAD v4: 8-71211156-CT-C
• MyVariant Identifiers: chr8:g.72123392del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71211162del , CM000670.2:g.71211162del	GRCh38
NC_000008.10:g.72123397del , CM000670.1:g.72123397del	GRCh37
NC_000008.9:g.72285951del	NCBI36
NG_011735.2:g.156076del
NG_011735.3:g.341974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1697del MANE Select	ENSP00000342626.3:p.Lys566SerfsTer?
ENST00000388741.7:c.1595del	ENSP00000373393.2:p.Lys532SerfsTer?
ENST00000419131.6:c.1592del	ENSP00000410176.1:p.Lys531SerfsTer?
ENST00000465115.6:c.*976del	ENSP00000428391.1:n.*976del
ENST00000496494.6:n.2160del
ENST00000642391.1:c.*1374del	ENSP00000496700.1:n.*1374del
ENST00000643681.1:c.1784del	ENSP00000495390.1:p.Lys595SerfsTer?
ENST00000644229.1:c.1679del	ENSP00000494568.1:p.Lys560SerfsTer?
ENST00000644424.1:n.767del
ENST00000644712.1:c.1676del	ENSP00000496188.1:p.Lys559SerfsTer?
ENST00000645793.1:c.1697del	ENSP00000496255.1:p.Lys566SerfsTer?
ENST00000647540.1:c.1697del	ENSP00000494438.1:p.Lys566SerfsTer?
ENST00000303824.11:c.1679del	ENSP00000303221.7:p.Lys560SerfsTer?
ENST00000340726.7:c.1697del	ENSP00000342626.3:p.Lys566SerfsTer?
ENST00000388740.4:c.1598del	ENSP00000373392.3:p.Lys533SerfsTer?
ENST00000388741.6:c.1595del	ENSP00000373393.2:p.Lys532SerfsTer?
ENST00000388742.8:c.1697del	ENSP00000373394.4:p.Lys566SerfsTer?
ENST00000388743.6:c.1694del	ENSP00000373395.2:p.Lys565SerfsTer?
ENST00000419131.5:c.1592del	ENSP00000410176.1:p.Lys531SerfsTer?
ENST00000465115.5:c.*976del	ENSP00000428391.1:n.*976del
ENST00000496494.5:n.2192del
NM_000503.5:c.1697del	NP_000494.2:p.Lys566SerfsTer?
NM_001288574.1:c.1679del	NP_001275503.1:p.Lys560SerfsTer?
NM_001288575.1:c.1331del	NP_001275504.1:p.Lys444SerfsTer?
NM_172058.3:c.1697del	NP_742055.1:p.Lys566SerfsTer?
NM_172059.3:c.1592del	NP_742056.1:p.Lys531SerfsTer?
NM_172060.3:c.1598del	NP_742057.1:p.Lys533SerfsTer?
XM_011517481.1:c.1769del	XP_011515783.1:p.Ala591HisfsTer27
XM_011517482.1:c.1784del	XP_011515784.1:p.Ala596HisfsTer27
XM_011517483.1:c.1694del	XP_011515785.1:p.Lys565SerfsTer?
XM_011517484.1:c.1682del	XP_011515786.1:p.Lys561SerfsTer?
XM_011517485.1:c.1697del	XP_011515787.1:p.Ala567HisfsTer27
XM_011517486.1:c.1697del	XP_011515788.1:p.Ala567HisfsTer27
XM_011517487.1:c.1697del	XP_011515789.1:p.Ala567HisfsTer27
XM_011517488.1:c.1694del	XP_011515790.1:p.Ala566HisfsTer27
XM_011517489.1:c.1634del	XP_011515791.1:p.Ala546HisfsTer27
XM_011517490.1:c.1598del	XP_011515792.1:p.Ala534HisfsTer27
XM_011517491.1:c.1598del	XP_011515793.1:p.Ala534HisfsTer27
XM_011517492.1:c.1346del	XP_011515794.1:p.Ala450HisfsTer27
NM_172059.4:c.1679del	NP_742056.2:p.Lys560SerfsTer?
XM_011517483.2:c.1694del	XP_011515785.1:p.Lys565SerfsTer?
XM_011517484.3:c.1769del	XP_011515786.2:p.Lys590SerfsTer?
XM_017013201.1:c.1784del	XP_016868690.1:p.Lys595SerfsTer?
XM_017013202.1:c.1784del	XP_016868691.1:p.Lys595SerfsTer?
XM_017013203.2:c.1781del	XP_016868692.1:p.Lys594SerfsTer?
XM_017013204.2:c.1766del	XP_016868693.1:p.Lys589SerfsTer?
XM_017013205.2:c.1784del	XP_016868694.1:p.Lys595ArgfsTer23
XM_017013206.1:c.1697del	XP_016868695.1:p.Lys566SerfsTer?
XM_017013207.2:c.1694del	XP_016868696.1:p.Lys565SerfsTer?
XM_017013208.2:c.1694del	XP_016868697.1:p.Lys565SerfsTer?
XM_017013210.2:c.1676del	XP_016868699.1:p.Lys559SerfsTer?
XM_017013211.2:c.1634del	XP_016868700.1:p.Lys545SerfsTer?
XM_017013212.2:c.1598del	XP_016868701.1:p.Lys533SerfsTer?
XM_017013213.1:c.1346del	XP_016868702.1:p.Lys449SerfsTer?
NM_000503.6:c.1697del MANE Select	NP_000494.2:p.Lys566SerfsTer?
NM_001288574.2:c.1679del	NP_001275503.1:p.Lys560SerfsTer?
NM_001288575.2:c.1331del	NP_001275504.1:p.Lys444SerfsTer?
NM_001370333.1:c.1784del	NP_001357262.1:p.Lys595SerfsTer?
NM_001370334.1:c.1697del	NP_001357263.1:p.Lys566SerfsTer?
NM_001370335.1:c.1697del	NP_001357264.1:p.Lys566SerfsTer?
NM_001370336.1:c.1676del	NP_001357265.1:p.Lys559SerfsTer?
NM_172058.4:c.1697del	NP_742055.1:p.Lys566SerfsTer?
NM_172059.5:c.1679del	NP_742056.2:p.Lys560SerfsTer?