Canonical Allele Identifier: CA270061
Gene: EYS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63984390del , CM000668.2:g.63984390del GRCh38
NC_000006.11:g.64694283del , CM000668.1:g.64694283del GRCh37
NC_000006.10:g.64752242del NCBI36
NG_023443.1:g.1727836del
NG_023443.2:g.1727836del

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.7048del MANE Select ENSP00000424243.1:p.Cys2350AlafsTer?
ENST00000370616.6:c.7048del ENSP00000359650.2:p.Cys2350AlafsTer?
ENST00000370618.7:c.7048del ENSP00000359652.4:p.Cys2350AlafsTer?
ENST00000370621.7:c.7048del ENSP00000359655.3:p.Cys2350AlafsTer?
ENST00000398580.3:c.362del
ENST00000503581.5:c.7048del ENSP00000424243.1:p.Cys2350AlafsTer?
NM_001142800.1:c.7048del NP_001136272.1:p.Cys2350AlafsTer?
NM_001292009.1:c.7048del NP_001278938.1:p.Cys2350AlafsTer?
XR_001744188.1:n.606+16106del
XR_001744189.1:n.129+16106del
XR_001744190.1:n.197+16106del
XR_001744191.1:n.607-1264del
NM_001142800.2:c.7048del MANE Select NP_001136272.1:p.Cys2350AlafsTer?
NM_001292009.2:c.7048del NP_001278938.1:p.Cys2350AlafsTer?
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