Canonical Allele Identifier: CA254270
Gene: EYA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7934
ClinVar RCV Id: RCV000008396
dbSNP Id: rs606231355
MyVariant Identifiers: chr8:g.72123391_72123394del (hg19) chr8:g.71211156_71211159del (hg38)
PubMed: PMID:5365063 PMID:9603436
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.71211156_71211159del , CM000670.2:g.71211156_71211159del GRCh38
NC_000008.10:g.72123391_72123394del , CM000670.1:g.72123391_72123394del GRCh37
NC_000008.9:g.72285945_72285948del NCBI36
NG_011735.2:g.156074_156077del
NG_011735.3:g.341972_341975del

Transcript Alleles

HGVS Amino-acid change
ENST00000340726.8:c.1695_1698del MANE Select ENSP00000342626.3:p.Lys565AsnfsTer?
ENST00000388741.7:c.1593_1596del ENSP00000373393.2:p.Lys531AsnfsTer?
ENST00000419131.6:c.1590_1593del ENSP00000410176.1:p.Lys530AsnfsTer?
ENST00000465115.6:c.*974_*977del ENSP00000428391.1:n.*974_*977del
ENST00000496494.6:n.2158_2161del
ENST00000642391.1:c.*1372_*1375del ENSP00000496700.1:n.*1372_*1375del
ENST00000643681.1:c.1782_1785del ENSP00000495390.1:p.Lys594AsnfsTer?
ENST00000644229.1:c.1677_1680del ENSP00000494568.1:p.Lys559AsnfsTer?
ENST00000644424.1:n.765_768del
ENST00000644712.1:c.1674_1677del ENSP00000496188.1:p.Lys558AsnfsTer?
ENST00000645793.1:c.1695_1698del ENSP00000496255.1:p.Lys565AsnfsTer?
ENST00000647540.1:c.1695_1698del ENSP00000494438.1:p.Lys565AsnfsTer?
ENST00000303824.11:c.1677_1680del ENSP00000303221.7:p.Lys559AsnfsTer?
ENST00000340726.7:c.1695_1698del ENSP00000342626.3:p.Lys565AsnfsTer?
ENST00000388740.4:c.1596_1599del ENSP00000373392.3:p.Lys532AsnfsTer?
ENST00000388741.6:c.1593_1596del ENSP00000373393.2:p.Lys531AsnfsTer?
ENST00000388742.8:c.1695_1698del ENSP00000373394.4:p.Lys565AsnfsTer?
ENST00000388743.6:c.1692_1695del ENSP00000373395.2:p.Lys564AsnfsTer?
ENST00000419131.5:c.1590_1593del ENSP00000410176.1:p.Lys530AsnfsTer?
ENST00000465115.5:c.*974_*977del ENSP00000428391.1:n.*974_*977del
ENST00000496494.5:n.2190_2193del
NM_000503.5:c.1695_1698del NP_000494.2:p.Lys565AsnfsTer?
NM_001288574.1:c.1677_1680del NP_001275503.1:p.Lys559AsnfsTer?
NM_001288575.1:c.1329_1332del NP_001275504.1:p.Lys443AsnfsTer?
NM_172058.3:c.1695_1698del NP_742055.1:p.Lys565AsnfsTer?
NM_172059.3:c.1590_1593del NP_742056.1:p.Lys530AsnfsTer?
NM_172060.3:c.1596_1599del NP_742057.1:p.Lys532AsnfsTer?
XM_011517481.1:c.1767_1769+1del
XM_011517482.1:c.1782_1784+1del
XM_011517483.1:c.1692_1695del XP_011515785.1:p.Lys564AsnfsTer?
XM_011517484.1:c.1680_1683del XP_011515786.1:p.Lys560AsnfsTer?
XM_011517485.1:c.1695_1697+1del
XM_011517486.1:c.1695_1697+1del
XM_011517487.1:c.1695_1697+1del
XM_011517488.1:c.1692_1694+1del
XM_011517489.1:c.1632_1634+1del
XM_011517490.1:c.1596_1598+1del
XM_011517491.1:c.1596_1598+1del
XM_011517492.1:c.1344_1346+1del
NM_172059.4:c.1677_1680del NP_742056.2:p.Lys559AsnfsTer?
XM_011517483.2:c.1692_1695del XP_011515785.1:p.Lys564AsnfsTer?
XM_011517484.3:c.1767_1770del XP_011515786.2:p.Lys589AsnfsTer?
XM_017013201.1:c.1782_1785del XP_016868690.1:p.Lys594AsnfsTer?
XM_017013202.1:c.1782_1785del XP_016868691.1:p.Lys594AsnfsTer?
XM_017013203.2:c.1779_1782del XP_016868692.1:p.Lys593AsnfsTer?
XM_017013204.2:c.1764_1767del XP_016868693.1:p.Lys588AsnfsTer?
XM_017013205.2:c.1782_1785del XP_016868694.1:p.Lys595SerfsTer22
XM_017013206.1:c.1695_1698del XP_016868695.1:p.Lys565AsnfsTer?
XM_017013207.2:c.1692_1695del XP_016868696.1:p.Lys564AsnfsTer?
XM_017013208.2:c.1692_1695del XP_016868697.1:p.Lys564AsnfsTer?
XM_017013210.2:c.1674_1677del XP_016868699.1:p.Lys558AsnfsTer?
XM_017013211.2:c.1632_1635del XP_016868700.1:p.Lys544AsnfsTer?
XM_017013212.2:c.1596_1599del XP_016868701.1:p.Lys532AsnfsTer?
XM_017013213.1:c.1344_1347del XP_016868702.1:p.Lys448AsnfsTer?
NM_000503.6:c.1695_1698del MANE Select NP_000494.2:p.Lys565AsnfsTer?
NM_001288574.2:c.1677_1680del NP_001275503.1:p.Lys559AsnfsTer?
NM_001288575.2:c.1329_1332del NP_001275504.1:p.Lys443AsnfsTer?
NM_001370333.1:c.1782_1785del NP_001357262.1:p.Lys594AsnfsTer?
NM_001370334.1:c.1695_1698del NP_001357263.1:p.Lys565AsnfsTer?
NM_001370335.1:c.1695_1698del NP_001357264.1:p.Lys565AsnfsTer?
NM_001370336.1:c.1674_1677del NP_001357265.1:p.Lys558AsnfsTer?
NM_172058.4:c.1695_1698del NP_742055.1:p.Lys565AsnfsTer?
NM_172059.5:c.1677_1680del NP_742056.2:p.Lys559AsnfsTer?
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