Canonical Allele Identifier: CA915944321

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64591253_64591256del , CM000668.2:g.64591253_64591256del	GRCh38
NC_000006.11:g.65301146_65301149del , CM000668.1:g.65301146_65301149del	GRCh37
NC_000006.10:g.65357867_65357870del	NCBI36
NG_023443.1:g.1120972_1120975del
NG_023443.2:g.1120972_1120975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.4613_4616del MANE Select	ENSP00000424243.1:p.Leu1538GlnfsTer11
ENST00000370616.6:c.4613_4616del	ENSP00000359650.2:p.Leu1538GlnfsTer11
ENST00000370618.7:c.4613_4616del	ENSP00000359652.4:p.Leu1538GlnfsTer11
ENST00000370621.7:c.4613_4616del	ENSP00000359655.3:p.Leu1538GlnfsTer11
ENST00000503581.5:c.4613_4616del	ENSP00000424243.1:p.Leu1538GlnfsTer11
NM_001142800.1:c.4613_4616del	NP_001136272.1:p.Leu1538GlnfsTer11
NM_001292009.1:c.4613_4616del	NP_001278938.1:p.Leu1538GlnfsTer11
NM_001142800.2:c.4613_4616del MANE Select	NP_001136272.1:p.Leu1538GlnfsTer11
NM_001292009.2:c.4613_4616del	NP_001278938.1:p.Leu1538GlnfsTer11