Canonical Allele Identifier: CA2771459684

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788325_63788326insACAG , CM000668.2:g.63788325_63788326insACAG	GRCh38
NC_000006.11:g.64498218_64498219insACAG , CM000668.1:g.64498218_64498219insACAG	GRCh37
NC_000006.10:g.64556177_64556178insACAG	NCBI36
NG_023443.1:g.1923900_1923901insCTGT
NG_023443.2:g.1923900_1923901insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7579-77_7579-76insCTGT MANE Select	ENSP00000424243.1:n.7579-77_7579-76insCTGT
ENST00000370616.6:c.7579-77_7579-76insCTGT	ENSP00000359650.2:n.7579-77_7579-76insCTGT
ENST00000370618.7:c.7579-77_7579-76insCTGT	ENSP00000359652.4:n.7579-77_7579-76insCTGT
ENST00000370621.7:c.7579-77_7579-76insCTGT	ENSP00000359655.3:n.7579-77_7579-76insCTGT
ENST00000398580.3:c.893-77_893-76insCTGT
ENST00000486069.1:n.219-77_219-76insCTGT
ENST00000503581.5:c.7579-77_7579-76insCTGT	ENSP00000424243.1:n.7579-77_7579-76insCTGT
NM_001142800.1:c.7579-77_7579-76insCTGT	NP_001136272.1:n.7579-77_7579-76insCTGT
NM_001292009.1:c.7579-77_7579-76insCTGT	NP_001278938.1:n.7579-77_7579-76insCTGT
NM_001142800.2:c.7579-77_7579-76insCTGT MANE Select	NP_001136272.1:n.7579-77_7579-76insCTGT
NM_001292009.2:c.7579-77_7579-76insCTGT	NP_001278938.1:n.7579-77_7579-76insCTGT