Canonical Allele Identifier: CA2771459639
Gene: EYS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63788288_63788293del , CM000668.2:g.63788288_63788293del GRCh38
NC_000006.11:g.64498181_64498186del , CM000668.1:g.64498181_64498186del GRCh37
NC_000006.10:g.64556140_64556145del NCBI36
NG_023443.1:g.1923933_1923938del
NG_023443.2:g.1923933_1923938del

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.7579-44_7579-39del MANE Select ENSP00000424243.1:n.7579-44_7579-39del
ENST00000370616.6:c.7579-44_7579-39del ENSP00000359650.2:n.7579-44_7579-39del
ENST00000370618.7:c.7579-44_7579-39del ENSP00000359652.4:n.7579-44_7579-39del
ENST00000370621.7:c.7579-44_7579-39del ENSP00000359655.3:n.7579-44_7579-39del
ENST00000398580.3:c.893-44_893-39del
ENST00000486069.1:n.219-44_219-39del
ENST00000503581.5:c.7579-44_7579-39del ENSP00000424243.1:n.7579-44_7579-39del
NM_001142800.1:c.7579-44_7579-39del NP_001136272.1:n.7579-44_7579-39del
NM_001292009.1:c.7579-44_7579-39del NP_001278938.1:n.7579-44_7579-39del
NM_001142800.2:c.7579-44_7579-39del MANE Select NP_001136272.1:n.7579-44_7579-39del
NM_001292009.2:c.7579-44_7579-39del NP_001278938.1:n.7579-44_7579-39del
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