Canonical Allele Identifier: CA827010887

Gene: EYS

Linked Data

• dbSNP Id: rs1340683877
• MyVariant Identifiers: chr6:g.64694522_64694524del (hg19) ; chr6:g.63984629_63984631del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984632_63984634del , CM000668.2:g.63984632_63984634del	GRCh38
NC_000006.11:g.64694525_64694527del , CM000668.1:g.64694525_64694527del	GRCh37
NC_000006.10:g.64752484_64752486del	NCBI36
NG_023443.1:g.1727595_1727597del
NG_023443.2:g.1727595_1727597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-28_6835-26del MANE Select	ENSP00000424243.1:n.6835-28_6835-26del
ENST00000370616.6:c.6835-28_6835-26del	ENSP00000359650.2:n.6835-28_6835-26del
ENST00000370618.7:c.6835-28_6835-26del	ENSP00000359652.4:n.6835-28_6835-26del
ENST00000370621.7:c.6835-28_6835-26del	ENSP00000359655.3:n.6835-28_6835-26del
ENST00000398580.3:c.149-28_149-26del
ENST00000503581.5:c.6835-28_6835-26del	ENSP00000424243.1:n.6835-28_6835-26del
NM_001142800.1:c.6835-28_6835-26del	NP_001136272.1:n.6835-28_6835-26del
NM_001292009.1:c.6835-28_6835-26del	NP_001278938.1:n.6835-28_6835-26del
XR_001744188.1:n.606+16348_606+16350del
XR_001744189.1:n.129+16348_129+16350del
XR_001744190.1:n.197+16348_197+16350del
XR_001744191.1:n.607-1022_607-1020del
NM_001142800.2:c.6835-28_6835-26del MANE Select	NP_001136272.1:n.6835-28_6835-26del
NM_001292009.2:c.6835-28_6835-26del	NP_001278938.1:n.6835-28_6835-26del