Canonical Allele Identifier: CA1139659651
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 955657
ClinVar RCV Id: RCV001228338
dbSNP Id: rs1766397905
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230643_64230650dup , CM000668.2:g.64230643_64230650dup GRCh38
NC_000006.11:g.64940536_64940543dup , CM000668.1:g.64940536_64940543dup GRCh37
NC_000006.10:g.64998495_64998502dup NCBI36
NG_023443.1:g.1481579_1481586dup
NG_023443.2:g.1481579_1481586dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6369_6376dup MANE Select ENSP00000424243.1:p.Phe2126Ter
ENST00000370616.6:c.6369_6376dup ENSP00000359650.2:p.Phe2126Ter
ENST00000370618.7:c.6369_6376dup ENSP00000359652.4:p.Phe2126Ter
ENST00000370621.7:c.6369_6376dup ENSP00000359655.3:p.Phe2126Ter
ENST00000503581.5:c.6369_6376dup ENSP00000424243.1:p.Phe2126Ter
NM_001142800.1:c.6369_6376dup NP_001136272.1:p.Phe2126Ter
NM_001292009.1:c.6369_6376dup NP_001278938.1:p.Phe2126Ter
NM_001142800.2:c.6369_6376dup MANE Select NP_001136272.1:p.Phe2126Ter
NM_001292009.2:c.6369_6376dup NP_001278938.1:p.Phe2126Ter
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Search 100 bp 3'