Canonical Allele Identifier: CA140266925

Gene: EYS

Linked Data

• dbSNP Id: rs34752183
• MyVariant Identifiers: chr6:g.64694486_64694487insC (hg19) ; chr6:g.63984593_63984594insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984594dup , CM000668.2:g.63984594dup	GRCh38
NC_000006.11:g.64694487dup , CM000668.1:g.64694487dup	GRCh37
NC_000006.10:g.64752446dup	NCBI36
NG_023443.1:g.1727632dup
NG_023443.2:g.1727632dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6844dup MANE Select	ENSP00000424243.1:p.Glu2282GlyfsTer16
ENST00000370616.6:c.6844dup	ENSP00000359650.2:p.Glu2282GlyfsTer16
ENST00000370618.7:c.6844dup	ENSP00000359652.4:p.Glu2282GlyfsTer16
ENST00000370621.7:c.6844dup	ENSP00000359655.3:p.Glu2282GlyfsTer16
ENST00000398580.3:c.158dup
ENST00000503581.5:c.6844dup	ENSP00000424243.1:p.Glu2282GlyfsTer16
NM_001142800.1:c.6844dup	NP_001136272.1:p.Glu2282GlyfsTer16
NM_001292009.1:c.6844dup	NP_001278938.1:p.Glu2282GlyfsTer16
XR_001744188.1:n.606+16310dup
XR_001744189.1:n.129+16310dup
XR_001744190.1:n.197+16310dup
XR_001744191.1:n.607-1060dup
NM_001142800.2:c.6844dup MANE Select	NP_001136272.1:p.Glu2282GlyfsTer16
NM_001292009.2:c.6844dup	NP_001278938.1:p.Glu2282GlyfsTer16