Canonical Allele Identifier: CA2578659855

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984527_63984528del , CM000668.2:g.63984527_63984528del	GRCh38
NC_000006.11:g.64694420_64694421del , CM000668.1:g.64694420_64694421del	GRCh37
NC_000006.10:g.64752379_64752380del	NCBI36
NG_023443.1:g.1727699_1727700del
NG_023443.2:g.1727699_1727700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6911_6912del MANE Select	ENSP00000424243.1:p.Gly2304ValfsTer20
ENST00000370616.6:c.6911_6912del	ENSP00000359650.2:p.Gly2304ValfsTer20
ENST00000370618.7:c.6911_6912del	ENSP00000359652.4:p.Gly2304ValfsTer20
ENST00000370621.7:c.6911_6912del	ENSP00000359655.3:p.Gly2304ValfsTer20
ENST00000398580.3:c.225_226del
ENST00000503581.5:c.6911_6912del	ENSP00000424243.1:p.Gly2304ValfsTer20
NM_001142800.1:c.6911_6912del	NP_001136272.1:p.Gly2304ValfsTer20
NM_001292009.1:c.6911_6912del	NP_001278938.1:p.Gly2304ValfsTer20
XR_001744188.1:n.606+16243_606+16244del
XR_001744189.1:n.129+16243_129+16244del
XR_001744190.1:n.197+16243_197+16244del
XR_001744191.1:n.607-1127_607-1126del
NM_001142800.2:c.6911_6912del MANE Select	NP_001136272.1:p.Gly2304ValfsTer20
NM_001292009.2:c.6911_6912del	NP_001278938.1:p.Gly2304ValfsTer20