Canonical Allele Identifier: CA2771469814

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230798_64230799insGAAGAGCAGGGATGAATCAGA , CM000668.2:g.64230798_64230799insGAAGAGCAGGGATGAATCAGA	GRCh38
NC_000006.11:g.64940691_64940692insGAAGAGCAGGGATGAATCAGA , CM000668.1:g.64940691_64940692insGAAGAGCAGGGATGAATCAGA	GRCh37
NC_000006.10:g.64998650_64998651insGAAGAGCAGGGATGAATCAGA	NCBI36
NG_023443.1:g.1481427_1481428insTCTGATTCATCCCTGCTCTTC
NG_023443.2:g.1481427_1481428insTCTGATTCATCCCTGCTCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6217_6218insTCTGATTCATCCCTGCTCTTC MANE Select	ENSP00000424243.1:p.Thr2073IlefsTer2
ENST00000370616.6:c.6217_6218insTCTGATTCATCCCTGCTCTTC	ENSP00000359650.2:p.Thr2073IlefsTer2
ENST00000370618.7:c.6217_6218insTCTGATTCATCCCTGCTCTTC	ENSP00000359652.4:p.Thr2073IlefsTer2
ENST00000370621.7:c.6217_6218insTCTGATTCATCCCTGCTCTTC	ENSP00000359655.3:p.Thr2073IlefsTer2
ENST00000503581.5:c.6217_6218insTCTGATTCATCCCTGCTCTTC	ENSP00000424243.1:p.Thr2073IlefsTer2
NM_001142800.1:c.6217_6218insTCTGATTCATCCCTGCTCTTC	NP_001136272.1:p.Thr2073IlefsTer2
NM_001292009.1:c.6217_6218insTCTGATTCATCCCTGCTCTTC	NP_001278938.1:p.Thr2073IlefsTer2
NM_001142800.2:c.6217_6218insTCTGATTCATCCCTGCTCTTC MANE Select	NP_001136272.1:p.Thr2073IlefsTer2
NM_001292009.2:c.6217_6218insTCTGATTCATCCCTGCTCTTC	NP_001278938.1:p.Thr2073IlefsTer2