Canonical Allele Identifier: CA1633626738

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230902_64230907delinsGATTTA , CM000668.2:g.64230902_64230907delinsGATTTA	GRCh38
NC_000006.11:g.64940795_64940800delinsGATTTA , CM000668.1:g.64940795_64940800delinsGATTTA	GRCh37
NC_000006.10:g.64998754_64998759delinsGATTTA	NCBI36
NG_023443.1:g.1481319_1481324delinsTAAATC
NG_023443.2:g.1481319_1481324delinsTAAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6192-83_6192-78delinsTAAATC MANE Select	ENSP00000424243.1:n.6192-83_6192-78delinsTAAATC
ENST00000370616.6:c.6192-83_6192-78delinsTAAATC	ENSP00000359650.2:n.6192-83_6192-78delinsTAAATC
ENST00000370618.7:c.6192-83_6192-78delinsTAAATC	ENSP00000359652.4:n.6192-83_6192-78delinsTAAATC
ENST00000370621.7:c.6192-83_6192-78delinsTAAATC	ENSP00000359655.3:n.6192-83_6192-78delinsTAAATC
ENST00000503581.5:c.6192-83_6192-78delinsTAAATC	ENSP00000424243.1:n.6192-83_6192-78delinsTAAATC
NM_001142800.1:c.6192-83_6192-78delinsTAAATC	NP_001136272.1:n.6192-83_6192-78delinsTAAATC
NM_001292009.1:c.6192-83_6192-78delinsTAAATC	NP_001278938.1:n.6192-83_6192-78delinsTAAATC
NM_001142800.2:c.6192-83_6192-78delinsTAAATC MANE Select	NP_001136272.1:n.6192-83_6192-78delinsTAAATC
NM_001292009.2:c.6192-83_6192-78delinsTAAATC	NP_001278938.1:n.6192-83_6192-78delinsTAAATC