Canonical Allele Identifier: CA2499218441
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1071945
ClinVar RCV Id: RCV001384536
dbSNP Id: rs2150337928
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230627_64230639del , CM000668.2:g.64230627_64230639del GRCh38
NC_000006.11:g.64940520_64940532del , CM000668.1:g.64940520_64940532del GRCh37
NC_000006.10:g.64998479_64998491del NCBI36
NG_023443.1:g.1481591_1481603del
NG_023443.2:g.1481591_1481603del

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6381_6393del MANE Select ENSP00000424243.1:p.Gln2127HisfsTer26
ENST00000370616.6:c.6381_6393del ENSP00000359650.2:p.Gln2127HisfsTer26
ENST00000370618.7:c.6381_6393del ENSP00000359652.4:p.Gln2127HisfsTer26
ENST00000370621.7:c.6381_6393del ENSP00000359655.3:p.Gln2127HisfsTer26
ENST00000503581.5:c.6381_6393del ENSP00000424243.1:p.Gln2127HisfsTer26
NM_001142800.1:c.6381_6393del NP_001136272.1:p.Gln2127HisfsTer26
NM_001292009.1:c.6381_6393del NP_001278938.1:p.Gln2127HisfsTer26
NM_001142800.2:c.6381_6393del MANE Select NP_001136272.1:p.Gln2127HisfsTer26
NM_001292009.2:c.6381_6393del NP_001278938.1:p.Gln2127HisfsTer26
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