Canonical Allele Identifier: CA270058
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 143107
ClinVar RCV Id: RCV000132628
dbSNP Id: rs527236071
MyVariant Identifiers: chr6:g.65300557_65300558del (hg19) chr6:g.64590664_64590665del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64590665_64590666del , CM000668.2:g.64590665_64590666del GRCh38
NC_000006.11:g.65300558_65300559del , CM000668.1:g.65300558_65300559del GRCh37
NC_000006.10:g.65357279_65357280del NCBI36
NG_023443.1:g.1121561_1121562del
NG_023443.2:g.1121561_1121562del

Transcript Alleles

HGVS Amino-acid change
ENST00000503581.6:c.5202_5203del MANE Select ENSP00000424243.1:p.Phe1735GlnfsTer6
ENST00000370616.6:c.5202_5203del ENSP00000359650.2:p.Phe1735GlnfsTer6
ENST00000370618.7:c.5202_5203del ENSP00000359652.4:p.Phe1735GlnfsTer6
ENST00000370621.7:c.5202_5203del ENSP00000359655.3:p.Phe1735GlnfsTer6
ENST00000503581.5:c.5202_5203del ENSP00000424243.1:p.Phe1735GlnfsTer6
NM_001142800.1:c.5202_5203del NP_001136272.1:p.Phe1735GlnfsTer6
NM_001292009.1:c.5202_5203del NP_001278938.1:p.Phe1735GlnfsTer6
NM_001142800.2:c.5202_5203del MANE Select NP_001136272.1:p.Phe1735GlnfsTer6
NM_001292009.2:c.5202_5203del NP_001278938.1:p.Phe1735GlnfsTer6
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