Canonical Allele Identifier: CA140245730

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63806102dup , CM000668.2:g.63806102dup	GRCh38
NC_000006.11:g.64515995dup , CM000668.1:g.64515995dup	GRCh37
NC_000006.10:g.64573954dup	NCBI36
NG_023443.1:g.1906131dup
NG_023443.2:g.1906131dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7411+95dup MANE Select	ENSP00000424243.1:n.7411+95dup
ENST00000370616.6:c.7411+95dup	ENSP00000359650.2:n.7411+95dup
ENST00000370618.7:c.7411+95dup	ENSP00000359652.4:n.7411+95dup
ENST00000370621.7:c.7411+95dup	ENSP00000359655.3:n.7411+95dup
ENST00000398580.3:c.725+95dup
ENST00000486069.1:n.51+95dup
ENST00000503581.5:c.7411+95dup	ENSP00000424243.1:n.7411+95dup
NM_001142800.1:c.7411+95dup	NP_001136272.1:n.7411+95dup
NM_001292009.1:c.7411+95dup	NP_001278938.1:n.7411+95dup
NM_001142800.2:c.7411+95dup MANE Select	NP_001136272.1:n.7411+95dup
NM_001292009.2:c.7411+95dup	NP_001278938.1:n.7411+95dup