Canonical Allele Identifier: CA3877026
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 853125
ClinVar RCV Id: RCV001057873 RCV002222664 RCV003462571
dbSNP Id: rs761760327
ExAC: 6:65300469 A / AT
gnomAD v2: 6-65300469-A-AT
gnomAD v3: 6-64590576-A-AT
gnomAD v4: 6-64590576-A-AT
MyVariant Identifiers: chr6:g.65300469_65300470insT (hg19) chr6:g.64590576_64590577insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64590579dup , CM000668.2:g.64590579dup GRCh38
NC_000006.11:g.65300472dup , CM000668.1:g.65300472dup GRCh37
NC_000006.10:g.65357193dup NCBI36
NG_023443.1:g.1121649dup
NG_023443.2:g.1121649dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.5290dup MANE Select ENSP00000424243.1:p.Ile1764AsnfsTer6
ENST00000370616.6:c.5290dup ENSP00000359650.2:p.Ile1764AsnfsTer6
ENST00000370618.7:c.5290dup ENSP00000359652.4:p.Ile1764AsnfsTer6
ENST00000370621.7:c.5290dup ENSP00000359655.3:p.Ile1764AsnfsTer6
ENST00000503581.5:c.5290dup ENSP00000424243.1:p.Ile1764AsnfsTer6
NM_001142800.1:c.5290dup NP_001136272.1:p.Ile1764AsnfsTer6
NM_001292009.1:c.5290dup NP_001278938.1:p.Ile1764AsnfsTer6
NM_001142800.2:c.5290dup MANE Select NP_001136272.1:p.Ile1764AsnfsTer6
NM_001292009.2:c.5290dup NP_001278938.1:p.Ile1764AsnfsTer6
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