Canonical Allele Identifier: CA2771469816
Gene: EYS HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230812_64230813insCT , CM000668.2:g.64230812_64230813insCT GRCh38
NC_000006.11:g.64940705_64940706insCT , CM000668.1:g.64940705_64940706insCT GRCh37
NC_000006.10:g.64998664_64998665insCT NCBI36
NG_023443.1:g.1481413_1481414insAG
NG_023443.2:g.1481413_1481414insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6203_6204insAG MANE Select ENSP00000424243.1:p.Phe2068LeufsTer16
ENST00000370616.6:c.6203_6204insAG ENSP00000359650.2:p.Phe2068LeufsTer16
ENST00000370618.7:c.6203_6204insAG ENSP00000359652.4:p.Phe2068LeufsTer16
ENST00000370621.7:c.6203_6204insAG ENSP00000359655.3:p.Phe2068LeufsTer16
ENST00000503581.5:c.6203_6204insAG ENSP00000424243.1:p.Phe2068LeufsTer16
NM_001142800.1:c.6203_6204insAG NP_001136272.1:p.Phe2068LeufsTer16
NM_001292009.1:c.6203_6204insAG NP_001278938.1:p.Phe2068LeufsTer16
NM_001142800.2:c.6203_6204insAG MANE Select NP_001136272.1:p.Phe2068LeufsTer16
NM_001292009.2:c.6203_6204insAG NP_001278938.1:p.Phe2068LeufsTer16
Search 100 bp 5'
Search 100 bp 3'