Canonical Allele Identifier: CA2580075659

Gene: EYS

Linked Data

• ClinVar Variation Id: 2030426
• ClinVar RCV Id: RCV002871772

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65057620del , CM000668.2:g.65057620del	GRCh38
NC_000006.11:g.65767513del , CM000668.1:g.65767513del	GRCh37
NC_000006.10:g.65824234del	NCBI36
NG_023443.1:g.654608del
NG_023443.2:g.654608del

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.2133del MANE Select	ENSP00000424243.1:p.Phe711LeufsTer18
ENST00000370616.6:c.2133del	ENSP00000359650.2:p.Phe711LeufsTer18
ENST00000370618.7:c.2133del	ENSP00000359652.4:p.Phe711LeufsTer18
ENST00000370621.7:c.2133del	ENSP00000359655.3:p.Phe711LeufsTer18
ENST00000503581.5:c.2133del	ENSP00000424243.1:p.Phe711LeufsTer18
NM_001142800.1:c.2133del	NP_001136272.1:p.Phe711LeufsTer18
NM_001292009.1:c.2133del	NP_001278938.1:p.Phe711LeufsTer18
NM_001142800.2:c.2133del MANE Select	NP_001136272.1:p.Phe711LeufsTer18
NM_001292009.2:c.2133del	NP_001278938.1:p.Phe711LeufsTer18