Canonical Allele Identifier: CA827005624

Gene: EYS

Linked Data

• ClinVar Variation Id: 2104671
• ClinVar RCV Id: RCV003041753 ; RCV003459705
• dbSNP Id: rs1340921963
• gnomAD v3: 6-64230819-TG-T
• gnomAD v4: 6-64230819-TG-T
• MyVariant Identifiers: chr6:g.64940713del (hg19) ; chr6:g.64230820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230822del , CM000668.2:g.64230822del	GRCh38
NC_000006.11:g.64940715del , CM000668.1:g.64940715del	GRCh37
NC_000006.10:g.64998674del	NCBI36
NG_023443.1:g.1481406del
NG_023443.2:g.1481406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6196del MANE Select	ENSP00000424243.1:p.Gln2066ArgfsTer17
ENST00000370616.6:c.6196del	ENSP00000359650.2:p.Gln2066ArgfsTer17
ENST00000370618.7:c.6196del	ENSP00000359652.4:p.Gln2066ArgfsTer17
ENST00000370621.7:c.6196del	ENSP00000359655.3:p.Gln2066ArgfsTer17
ENST00000503581.5:c.6196del	ENSP00000424243.1:p.Gln2066ArgfsTer17
NM_001142800.1:c.6196del	NP_001136272.1:p.Gln2066ArgfsTer17
NM_001292009.1:c.6196del	NP_001278938.1:p.Gln2066ArgfsTer17
NM_001142800.2:c.6196del MANE Select	NP_001136272.1:p.Gln2066ArgfsTer17
NM_001292009.2:c.6196del	NP_001278938.1:p.Gln2066ArgfsTer17