Canonical Allele Identifier: CA2771469820

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230823_64230824insCAT , CM000668.2:g.64230823_64230824insCAT	GRCh38
NC_000006.11:g.64940716_64940717insCAT , CM000668.1:g.64940716_64940717insCAT	GRCh37
NC_000006.10:g.64998675_64998676insCAT	NCBI36
NG_023443.1:g.1481402_1481403insATG
NG_023443.2:g.1481402_1481403insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6192_6193insATG MANE Select	ENSP00000424243.1:p.Arg2064_Ser2065insMet
ENST00000370616.6:c.6192_6193insATG	ENSP00000359650.2:p.Arg2064_Ser2065insMet
ENST00000370618.7:c.6192_6193insATG	ENSP00000359652.4:p.Arg2064_Ser2065insMet
ENST00000370621.7:c.6192_6193insATG	ENSP00000359655.3:p.Arg2064_Ser2065insMet
ENST00000503581.5:c.6192_6193insATG	ENSP00000424243.1:p.Arg2064_Ser2065insMet
NM_001142800.1:c.6192_6193insATG	NP_001136272.1:p.Arg2064_Ser2065insMet
NM_001292009.1:c.6192_6193insATG	NP_001278938.1:p.Arg2064_Ser2065insMet
NM_001142800.2:c.6192_6193insATG MANE Select	NP_001136272.1:p.Arg2064_Ser2065insMet
NM_001292009.2:c.6192_6193insATG	NP_001278938.1:p.Arg2064_Ser2065insMet