Canonical Allele Identifier: CA270062
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 143110
ClinVar RCV Id: RCV000132631
dbSNP Id: rs527236078
MyVariant Identifiers: chr6:g.64498027del (hg19) chr6:g.63788134del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63788136del , CM000668.2:g.63788136del GRCh38
NC_000006.11:g.64498029del , CM000668.1:g.64498029del GRCh37
NC_000006.10:g.64555988del NCBI36
NG_023443.1:g.1924092del
NG_023443.2:g.1924092del

Transcript Alleles

HGVS Amino-acid change
ENST00000503581.6:c.7694del MANE Select ENSP00000424243.1:p.Asn2565MetfsTer?
ENST00000370616.6:c.7694del ENSP00000359650.2:p.Asn2565MetfsTer?
ENST00000370618.7:c.7694del ENSP00000359652.4:p.Asn2565MetfsTer?
ENST00000370621.7:c.7694del ENSP00000359655.3:p.Asn2565MetfsTer?
ENST00000398580.3:c.1008del
ENST00000486069.1:n.334del
ENST00000503581.5:c.7694del ENSP00000424243.1:p.Asn2565MetfsTer?
NM_001142800.1:c.7694del NP_001136272.1:p.Asn2565MetfsTer?
NM_001292009.1:c.7694del NP_001278938.1:p.Asn2565MetfsTer?
NM_001142800.2:c.7694del MANE Select NP_001136272.1:p.Asn2565MetfsTer?
NM_001292009.2:c.7694del NP_001278938.1:p.Asn2565MetfsTer?
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