Canonical Allele Identifier: CA2771459655

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788309_63788310insCAG , CM000668.2:g.63788309_63788310insCAG	GRCh38
NC_000006.11:g.64498202_64498203insCAG , CM000668.1:g.64498202_64498203insCAG	GRCh37
NC_000006.10:g.64556161_64556162insCAG	NCBI36
NG_023443.1:g.1923916_1923917insCTG
NG_023443.2:g.1923916_1923917insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7579-61_7579-60insCTG MANE Select	ENSP00000424243.1:n.7579-61_7579-60insCTG
ENST00000370616.6:c.7579-61_7579-60insCTG	ENSP00000359650.2:n.7579-61_7579-60insCTG
ENST00000370618.7:c.7579-61_7579-60insCTG	ENSP00000359652.4:n.7579-61_7579-60insCTG
ENST00000370621.7:c.7579-61_7579-60insCTG	ENSP00000359655.3:n.7579-61_7579-60insCTG
ENST00000398580.3:c.893-61_893-60insCTG
ENST00000486069.1:n.219-61_219-60insCTG
ENST00000503581.5:c.7579-61_7579-60insCTG	ENSP00000424243.1:n.7579-61_7579-60insCTG
NM_001142800.1:c.7579-61_7579-60insCTG	NP_001136272.1:n.7579-61_7579-60insCTG
NM_001292009.1:c.7579-61_7579-60insCTG	NP_001278938.1:n.7579-61_7579-60insCTG
NM_001142800.2:c.7579-61_7579-60insCTG MANE Select	NP_001136272.1:n.7579-61_7579-60insCTG
NM_001292009.2:c.7579-61_7579-60insCTG	NP_001278938.1:n.7579-61_7579-60insCTG