Canonical Allele Identifier: CA2771464263

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984721_63984722insCT , CM000668.2:g.63984721_63984722insCT	GRCh38
NC_000006.11:g.64694614_64694615insCT , CM000668.1:g.64694614_64694615insCT	GRCh37
NC_000006.10:g.64752573_64752574insCT	NCBI36
NG_023443.1:g.1727504_1727505insAG
NG_023443.2:g.1727504_1727505insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-119_6835-118insAG MANE Select	ENSP00000424243.1:n.6835-119_6835-118insAG
ENST00000370616.6:c.6835-119_6835-118insAG	ENSP00000359650.2:n.6835-119_6835-118insAG
ENST00000370618.7:c.6835-119_6835-118insAG	ENSP00000359652.4:n.6835-119_6835-118insAG
ENST00000370621.7:c.6835-119_6835-118insAG	ENSP00000359655.3:n.6835-119_6835-118insAG
ENST00000398580.3:c.149-119_149-118insAG
ENST00000503581.5:c.6835-119_6835-118insAG	ENSP00000424243.1:n.6835-119_6835-118insAG
NM_001142800.1:c.6835-119_6835-118insAG	NP_001136272.1:n.6835-119_6835-118insAG
NM_001292009.1:c.6835-119_6835-118insAG	NP_001278938.1:n.6835-119_6835-118insAG
XR_001744188.1:n.606+16437_606+16438insCT
XR_001744189.1:n.129+16437_129+16438insCT
XR_001744190.1:n.197+16437_197+16438insCT
XR_001744191.1:n.607-933_607-932insCT
NM_001142800.2:c.6835-119_6835-118insAG MANE Select	NP_001136272.1:n.6835-119_6835-118insAG
NM_001292009.2:c.6835-119_6835-118insAG	NP_001278938.1:n.6835-119_6835-118insAG