Canonical Allele Identifier: CA2697553552

Gene: EYS

Linked Data

• ClinVar Variation Id: 2706670
• ClinVar RCV Id: RCV003552097

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64590566del , CM000668.2:g.64590566del	GRCh38
NC_000006.11:g.65300459del , CM000668.1:g.65300459del	GRCh37
NC_000006.10:g.65357180del	NCBI36
NG_023443.1:g.1121662del
NG_023443.2:g.1121662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.5303del MANE Select	ENSP00000424243.1:p.Asn1768MetfsTer10
ENST00000370616.6:c.5303del	ENSP00000359650.2:p.Asn1768MetfsTer10
ENST00000370618.7:c.5303del	ENSP00000359652.4:p.Asn1768MetfsTer10
ENST00000370621.7:c.5303del	ENSP00000359655.3:p.Asn1768MetfsTer10
ENST00000503581.5:c.5303del	ENSP00000424243.1:p.Asn1768MetfsTer10
NM_001142800.1:c.5303del	NP_001136272.1:p.Asn1768MetfsTer10
NM_001292009.1:c.5303del	NP_001278938.1:p.Asn1768MetfsTer10
NM_001142800.2:c.5303del MANE Select	NP_001136272.1:p.Asn1768MetfsTer10
NM_001292009.2:c.5303del	NP_001278938.1:p.Asn1768MetfsTer10