Canonical Allele Identifier: CA1633508070

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984688_63984698delinsGATGTGTTTTA , CM000668.2:g.63984688_63984698delinsGATGTGTTTTA	GRCh38
NC_000006.11:g.64694581_64694591delinsGATGTGTTTTA , CM000668.1:g.64694581_64694591delinsGATGTGTTTTA	GRCh37
NC_000006.10:g.64752540_64752550delinsGATGTGTTTTA	NCBI36
NG_023443.1:g.1727528_1727538delinsTAAAACACATC
NG_023443.2:g.1727528_1727538delinsTAAAACACATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-95_6835-85delinsTAAAACACATC MANE Select	ENSP00000424243.1:n.6835-95_6835-85delinsTAAAACACATC
ENST00000370616.6:c.6835-95_6835-85delinsTAAAACACATC	ENSP00000359650.2:n.6835-95_6835-85delinsTAAAACACATC
ENST00000370618.7:c.6835-95_6835-85delinsTAAAACACATC	ENSP00000359652.4:n.6835-95_6835-85delinsTAAAACACATC
ENST00000370621.7:c.6835-95_6835-85delinsTAAAACACATC	ENSP00000359655.3:n.6835-95_6835-85delinsTAAAACACATC
ENST00000398580.3:c.149-95_149-85delinsTAAAACACATC
ENST00000503581.5:c.6835-95_6835-85delinsTAAAACACATC	ENSP00000424243.1:n.6835-95_6835-85delinsTAAAACACATC
NM_001142800.1:c.6835-95_6835-85delinsTAAAACACATC	NP_001136272.1:n.6835-95_6835-85delinsTAAAACACATC
NM_001292009.1:c.6835-95_6835-85delinsTAAAACACATC	NP_001278938.1:n.6835-95_6835-85delinsTAAAACACATC
XR_001744188.1:n.606+16404_606+16414delinsGATGTGTTTTA
XR_001744189.1:n.129+16404_129+16414delinsGATGTGTTTTA
XR_001744190.1:n.197+16404_197+16414delinsGATGTGTTTTA
XR_001744191.1:n.607-966_607-956delinsGATGTGTTTTA
NM_001142800.2:c.6835-95_6835-85delinsTAAAACACATC MANE Select	NP_001136272.1:n.6835-95_6835-85delinsTAAAACACATC
NM_001292009.2:c.6835-95_6835-85delinsTAAAACACATC	NP_001278938.1:n.6835-95_6835-85delinsTAAAACACATC