Canonical Allele Identifier: CA2771490529
Gene: EYS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.65057522_65057555del , CM000668.2:g.65057522_65057555del GRCh38
NC_000006.11:g.65767415_65767448del , CM000668.1:g.65767415_65767448del GRCh37
NC_000006.10:g.65824136_65824169del NCBI36
NG_023443.1:g.654671_654704del
NG_023443.2:g.654671_654704del

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.2137+59_2137+92del MANE Select ENSP00000424243.1:n.2137+59_2137+92del
ENST00000370616.6:c.2137+59_2137+92del ENSP00000359650.2:n.2137+59_2137+92del
ENST00000370618.7:c.2137+59_2137+92del ENSP00000359652.4:n.2137+59_2137+92del
ENST00000370621.7:c.2137+59_2137+92del ENSP00000359655.3:n.2137+59_2137+92del
ENST00000503581.5:c.2137+59_2137+92del ENSP00000424243.1:n.2137+59_2137+92del
NM_001142800.1:c.2137+59_2137+92del NP_001136272.1:n.2137+59_2137+92del
NM_001292009.1:c.2137+59_2137+92del NP_001278938.1:n.2137+59_2137+92del
NM_001142800.2:c.2137+59_2137+92del MANE Select NP_001136272.1:n.2137+59_2137+92del
NM_001292009.2:c.2137+59_2137+92del NP_001278938.1:n.2137+59_2137+92del
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