Canonical Allele Identifier: CA2771464220
Gene: EYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.63984679_63984682del , CM000668.2:g.63984679_63984682del GRCh38
NC_000006.11:g.64694572_64694575del , CM000668.1:g.64694572_64694575del GRCh37
NC_000006.10:g.64752531_64752534del NCBI36
NG_023443.1:g.1727545_1727548del
NG_023443.2:g.1727545_1727548del

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6835-78_6835-75del MANE Select ENSP00000424243.1:n.6835-78_6835-75del
ENST00000370616.6:c.6835-78_6835-75del ENSP00000359650.2:n.6835-78_6835-75del
ENST00000370618.7:c.6835-78_6835-75del ENSP00000359652.4:n.6835-78_6835-75del
ENST00000370621.7:c.6835-78_6835-75del ENSP00000359655.3:n.6835-78_6835-75del
ENST00000398580.3:c.149-78_149-75del
ENST00000503581.5:c.6835-78_6835-75del ENSP00000424243.1:n.6835-78_6835-75del
NM_001142800.1:c.6835-78_6835-75del NP_001136272.1:n.6835-78_6835-75del
NM_001292009.1:c.6835-78_6835-75del NP_001278938.1:n.6835-78_6835-75del
XR_001744188.1:n.606+16395_606+16398del
XR_001744189.1:n.129+16395_129+16398del
XR_001744190.1:n.197+16395_197+16398del
XR_001744191.1:n.607-975_607-972del
NM_001142800.2:c.6835-78_6835-75del MANE Select NP_001136272.1:n.6835-78_6835-75del
NM_001292009.2:c.6835-78_6835-75del NP_001278938.1:n.6835-78_6835-75del