Canonical Allele Identifier: CA2771464181

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984642_63984643insACAG , CM000668.2:g.63984642_63984643insACAG	GRCh38
NC_000006.11:g.64694535_64694536insACAG , CM000668.1:g.64694535_64694536insACAG	GRCh37
NC_000006.10:g.64752494_64752495insACAG	NCBI36
NG_023443.1:g.1727583_1727584insCTGT
NG_023443.2:g.1727583_1727584insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-40_6835-39insCTGT MANE Select	ENSP00000424243.1:n.6835-40_6835-39insCTGT
ENST00000370616.6:c.6835-40_6835-39insCTGT	ENSP00000359650.2:n.6835-40_6835-39insCTGT
ENST00000370618.7:c.6835-40_6835-39insCTGT	ENSP00000359652.4:n.6835-40_6835-39insCTGT
ENST00000370621.7:c.6835-40_6835-39insCTGT	ENSP00000359655.3:n.6835-40_6835-39insCTGT
ENST00000398580.3:c.149-40_149-39insCTGT
ENST00000503581.5:c.6835-40_6835-39insCTGT	ENSP00000424243.1:n.6835-40_6835-39insCTGT
NM_001142800.1:c.6835-40_6835-39insCTGT	NP_001136272.1:n.6835-40_6835-39insCTGT
NM_001292009.1:c.6835-40_6835-39insCTGT	NP_001278938.1:n.6835-40_6835-39insCTGT
XR_001744188.1:n.606+16358_606+16359insACAG
XR_001744189.1:n.129+16358_129+16359insACAG
XR_001744190.1:n.197+16358_197+16359insACAG
XR_001744191.1:n.607-1012_607-1011insACAG
NM_001142800.2:c.6835-40_6835-39insCTGT MANE Select	NP_001136272.1:n.6835-40_6835-39insCTGT
NM_001292009.2:c.6835-40_6835-39insCTGT	NP_001278938.1:n.6835-40_6835-39insCTGT