Canonical Allele Identifier: CA658822023

Gene: EYS

Linked Data

• ClinVar Variation Id: 553961
• ClinVar RCV Id: RCV000669507 ; RCV000793334
• dbSNP Id: rs1554220416
• MyVariant Identifiers: chr6:g.64230778_64230787del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230780_64230789del , CM000668.2:g.64230780_64230789del	GRCh38
NC_000006.11:g.64940673_64940682del , CM000668.1:g.64940673_64940682del	GRCh37
NC_000006.10:g.64998632_64998641del	NCBI36
NG_023443.1:g.1481439_1481448del
NG_023443.2:g.1481439_1481448del

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.6229_6238del MANE Select	ENSP00000424243.1:p.Val2077LeufsTer3
ENST00000370616.6:c.6229_6238del	ENSP00000359650.2:p.Val2077LeufsTer3
ENST00000370618.7:c.6229_6238del	ENSP00000359652.4:p.Val2077LeufsTer3
ENST00000370621.7:c.6229_6238del	ENSP00000359655.3:p.Val2077LeufsTer3
ENST00000503581.5:c.6229_6238del	ENSP00000424243.1:p.Val2077LeufsTer3
NM_001142800.1:c.6229_6238del	NP_001136272.1:p.Val2077LeufsTer3
NM_001292009.1:c.6229_6238del	NP_001278938.1:p.Val2077LeufsTer3
NM_001142800.2:c.6229_6238del MANE Select	NP_001136272.1:p.Val2077LeufsTer3
NM_001292009.2:c.6229_6238del	NP_001278938.1:p.Val2077LeufsTer3