Canonical Allele Identifier: CA1633507970

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984477_63984480delinsTGAA , CM000668.2:g.63984477_63984480delinsTGAA	GRCh38
NC_000006.11:g.64694370_64694373delinsTGAA , CM000668.1:g.64694370_64694373delinsTGAA	GRCh37
NC_000006.10:g.64752329_64752332delinsTGAA	NCBI36
NG_023443.1:g.1727746_1727749delinsTTCA
NG_023443.2:g.1727746_1727749delinsTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6958_6961delinsTTCA MANE Select	ENSP00000424243.1:p.Phe2320=
ENST00000370616.6:c.6958_6961delinsTTCA	ENSP00000359650.2:p.Phe2320=
ENST00000370618.7:c.6958_6961delinsTTCA	ENSP00000359652.4:p.Phe2320=
ENST00000370621.7:c.6958_6961delinsTTCA	ENSP00000359655.3:p.Phe2320=
ENST00000398580.3:c.272_275delinsTTCA
ENST00000503581.5:c.6958_6961delinsTTCA	ENSP00000424243.1:p.Phe2320=
NM_001142800.1:c.6958_6961delinsTTCA	NP_001136272.1:p.Phe2320=
NM_001292009.1:c.6958_6961delinsTTCA	NP_001278938.1:p.Phe2320=
XR_001744188.1:n.606+16193_606+16196delinsTGAA
XR_001744189.1:n.129+16193_129+16196delinsTGAA
XR_001744190.1:n.197+16193_197+16196delinsTGAA
XR_001744191.1:n.607-1177_607-1174delinsTGAA
NM_001142800.2:c.6958_6961delinsTTCA MANE Select	NP_001136272.1:p.Phe2320=
NM_001292009.2:c.6958_6961delinsTTCA	NP_001278938.1:p.Phe2320=