Canonical Allele Identifier: CA2679289088

Gene: EYS

Linked Data

• gnomAD v4: 6-65402516-A-AGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65402516_65402517insGGCG , CM000668.2:g.65402516_65402517insGGCG	GRCh38
NC_000006.11:g.66112409_66112410insGGCG , CM000668.1:g.66112409_66112410insGGCG	GRCh37
NC_000006.10:g.66169130_66169131insGGCG	NCBI36
NG_023443.1:g.309709_309710insCGCC
NG_023443.2:g.309709_309710insCGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000503581.6:c.1145_1146insCGCC MANE Select	ENSP00000424243.1:p.Thr384CysfsTer4
ENST00000342421.9:c.1145_1146insCGCC	ENSP00000341818.5:p.Thr384CysfsTer4
ENST00000370616.6:c.1145_1146insCGCC	ENSP00000359650.2:p.Thr384CysfsTer4
ENST00000370618.7:c.1145_1146insCGCC	ENSP00000359652.4:p.Thr384CysfsTer4
ENST00000370621.7:c.1145_1146insCGCC	ENSP00000359655.3:p.Thr384CysfsTer4
ENST00000393380.6:c.1145_1146insCGCC	ENSP00000377042.2:p.Thr384CysfsTer4
ENST00000503581.5:c.1145_1146insCGCC	ENSP00000424243.1:p.Thr384CysfsTer4
NM_001142800.1:c.1145_1146insCGCC	NP_001136272.1:p.Thr384CysfsTer4
NM_001142801.1:c.1145_1146insCGCC	NP_001136273.1:p.Thr384CysfsTer4
NM_001292009.1:c.1145_1146insCGCC	NP_001278938.1:p.Thr384CysfsTer4
NM_198283.1:c.1145_1146insCGCC	NP_938024.1:p.Thr384CysfsTer4
NM_001142800.2:c.1145_1146insCGCC MANE Select	NP_001136272.1:p.Thr384CysfsTer4
NM_001142801.2:c.1145_1146insCGCC	NP_001136273.1:p.Thr384CysfsTer4
NM_001292009.2:c.1145_1146insCGCC	NP_001278938.1:p.Thr384CysfsTer4
NM_198283.2:c.1145_1146insCGCC	NP_938024.1:p.Thr384CysfsTer4