Canonical Allele Identifier: CA3876796

Gene: EYS

Linked Data

• ClinVar Variation Id: 1562055
• ClinVar RCV Id: RCV002212300
• dbSNP Id: rs752462530
• ExAC: 6:64498153 G / GA
• gnomAD v2: 6-64498153-G-GA
• gnomAD v3: 6-63788260-G-GA
• gnomAD v4: 6-63788260-G-GA
• MyVariant Identifiers: chr6:g.64498154_64498155insA (hg19) ; chr6:g.64498153_64498154insA (hg19) ; chr6:g.63788261_63788262insA (hg38) ; chr6:g.63788260_63788261insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788268dup , CM000668.2:g.63788268dup	GRCh38
NC_000006.11:g.64498161dup , CM000668.1:g.64498161dup	GRCh37
NC_000006.10:g.64556120dup	NCBI36
NG_023443.1:g.1923965dup
NG_023443.2:g.1923965dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7579-12dup MANE Select	ENSP00000424243.1:n.7579-12dup
ENST00000370616.6:c.7579-12dup	ENSP00000359650.2:n.7579-12dup
ENST00000370618.7:c.7579-12dup	ENSP00000359652.4:n.7579-12dup
ENST00000370621.7:c.7579-12dup	ENSP00000359655.3:n.7579-12dup
ENST00000398580.3:c.893-12dup
ENST00000486069.1:n.219-12dup
ENST00000503581.5:c.7579-12dup	ENSP00000424243.1:n.7579-12dup
NM_001142800.1:c.7579-12dup	NP_001136272.1:n.7579-12dup
NM_001292009.1:c.7579-12dup	NP_001278938.1:n.7579-12dup
NM_001142800.2:c.7579-12dup MANE Select	NP_001136272.1:n.7579-12dup
NM_001292009.2:c.7579-12dup	NP_001278938.1:n.7579-12dup