Canonical Allele Identifier: CA2771459752
Gene: EYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63788404_63788405insA , CM000668.2:g.63788404_63788405insA GRCh38
NC_000006.11:g.64498297_64498298insA , CM000668.1:g.64498297_64498298insA GRCh37
NC_000006.10:g.64556256_64556257insA NCBI36
NG_023443.1:g.1923821_1923822insT
NG_023443.2:g.1923821_1923822insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.7579-156_7579-155insT MANE Select ENSP00000424243.1:n.7579-156_7579-155insT
ENST00000370616.6:c.7579-156_7579-155insT ENSP00000359650.2:n.7579-156_7579-155insT
ENST00000370618.7:c.7579-156_7579-155insT ENSP00000359652.4:n.7579-156_7579-155insT
ENST00000370621.7:c.7579-156_7579-155insT ENSP00000359655.3:n.7579-156_7579-155insT
ENST00000398580.3:c.893-156_893-155insT
ENST00000486069.1:n.219-156_219-155insT
ENST00000503581.5:c.7579-156_7579-155insT ENSP00000424243.1:n.7579-156_7579-155insT
NM_001142800.1:c.7579-156_7579-155insT NP_001136272.1:n.7579-156_7579-155insT
NM_001292009.1:c.7579-156_7579-155insT NP_001278938.1:n.7579-156_7579-155insT
NM_001142800.2:c.7579-156_7579-155insT MANE Select NP_001136272.1:n.7579-156_7579-155insT
NM_001292009.2:c.7579-156_7579-155insT NP_001278938.1:n.7579-156_7579-155insT