Canonical Allele Identifier: CA2771459616

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788201del , CM000668.2:g.63788201del	GRCh38
NC_000006.11:g.64498094del , CM000668.1:g.64498094del	GRCh37
NC_000006.10:g.64556053del	NCBI36
NG_023443.1:g.1924026del
NG_023443.2:g.1924026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7628del MANE Select	ENSP00000424243.1:p.Gly2543ValfsTer10
ENST00000370616.6:c.7628del	ENSP00000359650.2:p.Gly2543ValfsTer10
ENST00000370618.7:c.7628del	ENSP00000359652.4:p.Gly2543ValfsTer10
ENST00000370621.7:c.7628del	ENSP00000359655.3:p.Gly2543ValfsTer10
ENST00000398580.3:c.942del
ENST00000486069.1:n.268del
ENST00000503581.5:c.7628del	ENSP00000424243.1:p.Gly2543ValfsTer10
NM_001142800.1:c.7628del	NP_001136272.1:p.Gly2543ValfsTer10
NM_001292009.1:c.7628del	NP_001278938.1:p.Gly2543ValfsTer10
NM_001142800.2:c.7628del MANE Select	NP_001136272.1:p.Gly2543ValfsTer10
NM_001292009.2:c.7628del	NP_001278938.1:p.Gly2543ValfsTer10