Canonical Allele Identifier: CA2573052723
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1324359
ClinVar RCV Id: RCV001781064
dbSNP Id: rs2150338012
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230730del , CM000668.2:g.64230730del GRCh38
NC_000006.11:g.64940623del , CM000668.1:g.64940623del GRCh37
NC_000006.10:g.64998582del NCBI36
NG_023443.1:g.1481496del
NG_023443.2:g.1481496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6286del MANE Select ENSP00000424243.1:p.Ser2096LeufsTer28
ENST00000370616.6:c.6286del ENSP00000359650.2:p.Ser2096LeufsTer28
ENST00000370618.7:c.6286del ENSP00000359652.4:p.Ser2096LeufsTer28
ENST00000370621.7:c.6286del ENSP00000359655.3:p.Ser2096LeufsTer28
ENST00000503581.5:c.6286del ENSP00000424243.1:p.Ser2096LeufsTer28
NM_001142800.1:c.6286del NP_001136272.1:p.Ser2096LeufsTer28
NM_001292009.1:c.6286del NP_001278938.1:p.Ser2096LeufsTer28
NM_001142800.2:c.6286del MANE Select NP_001136272.1:p.Ser2096LeufsTer28
NM_001292009.2:c.6286del NP_001278938.1:p.Ser2096LeufsTer28
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