Canonical Allele Identifier: CA1089830951
Gene: EYS HGNC NCBI

Linked Data

dbSNP Id: rs1766398465
gnomAD v3: 6-64230657-GAGAGGA-G
gnomAD v4: 6-64230657-GAGAGGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230661_64230666del , CM000668.2:g.64230661_64230666del GRCh38
NC_000006.11:g.64940554_64940559del , CM000668.1:g.64940554_64940559del GRCh37
NC_000006.10:g.64998513_64998518del NCBI36
NG_023443.1:g.1481563_1481568del
NG_023443.2:g.1481563_1481568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6353_6358del MANE Select ENSP00000424243.1:p.Phe2118_Leu2119del
ENST00000370616.6:c.6353_6358del ENSP00000359650.2:p.Phe2118_Leu2119del
ENST00000370618.7:c.6353_6358del ENSP00000359652.4:p.Phe2118_Leu2119del
ENST00000370621.7:c.6353_6358del ENSP00000359655.3:p.Phe2118_Leu2119del
ENST00000503581.5:c.6353_6358del ENSP00000424243.1:p.Phe2118_Leu2119del
NM_001142800.1:c.6353_6358del NP_001136272.1:p.Phe2118_Leu2119del
NM_001292009.1:c.6353_6358del NP_001278938.1:p.Phe2118_Leu2119del
NM_001142800.2:c.6353_6358del MANE Select NP_001136272.1:p.Phe2118_Leu2119del
NM_001292009.2:c.6353_6358del NP_001278938.1:p.Phe2118_Leu2119del
Search 100 bp 5'
Search 100 bp 3'