Canonical Allele Identifier: CA270053

Gene: EYS

Linked Data

• ClinVar Variation Id: 143103
• ClinVar RCV Id: RCV000132624
• dbSNP Id: rs527236075
• MyVariant Identifiers: chr6:g.65301373del (hg19) ; chr6:g.64591480del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64591480del , CM000668.2:g.64591480del	GRCh38
NC_000006.11:g.65301373del , CM000668.1:g.65301373del	GRCh37
NC_000006.10:g.65358094del	NCBI36
NG_023443.1:g.1120746del
NG_023443.2:g.1120746del

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.4387del MANE Select	ENSP00000424243.1:p.Arg1463GlyfsTer15
ENST00000370616.6:c.4387del	ENSP00000359650.2:p.Arg1463GlyfsTer15
ENST00000370618.7:c.4387del	ENSP00000359652.4:p.Arg1463GlyfsTer15
ENST00000370621.7:c.4387del	ENSP00000359655.3:p.Arg1463GlyfsTer15
ENST00000503581.5:c.4387del	ENSP00000424243.1:p.Arg1463GlyfsTer15
NM_001142800.1:c.4387del	NP_001136272.1:p.Arg1463GlyfsTer15
NM_001292009.1:c.4387del	NP_001278938.1:p.Arg1463GlyfsTer15
NM_001142800.2:c.4387del MANE Select	NP_001136272.1:p.Arg1463GlyfsTer15
NM_001292009.2:c.4387del	NP_001278938.1:p.Arg1463GlyfsTer15