Canonical Allele Identifier: CA2771459703

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788341_63788342dup , CM000668.2:g.63788341_63788342dup	GRCh38
NC_000006.11:g.64498234_64498235dup , CM000668.1:g.64498234_64498235dup	GRCh37
NC_000006.10:g.64556193_64556194dup	NCBI36
NG_023443.1:g.1923884_1923885dup
NG_023443.2:g.1923884_1923885dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7579-93_7579-92dup MANE Select	ENSP00000424243.1:n.7579-93_7579-92dup
ENST00000370616.6:c.7579-93_7579-92dup	ENSP00000359650.2:n.7579-93_7579-92dup
ENST00000370618.7:c.7579-93_7579-92dup	ENSP00000359652.4:n.7579-93_7579-92dup
ENST00000370621.7:c.7579-93_7579-92dup	ENSP00000359655.3:n.7579-93_7579-92dup
ENST00000398580.3:c.893-93_893-92dup
ENST00000486069.1:n.219-93_219-92dup
ENST00000503581.5:c.7579-93_7579-92dup	ENSP00000424243.1:n.7579-93_7579-92dup
NM_001142800.1:c.7579-93_7579-92dup	NP_001136272.1:n.7579-93_7579-92dup
NM_001292009.1:c.7579-93_7579-92dup	NP_001278938.1:n.7579-93_7579-92dup
NM_001142800.2:c.7579-93_7579-92dup MANE Select	NP_001136272.1:n.7579-93_7579-92dup
NM_001292009.2:c.7579-93_7579-92dup	NP_001278938.1:n.7579-93_7579-92dup