Canonical Allele Identifier: CA2771464249

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984696_63984697insAG , CM000668.2:g.63984696_63984697insAG	GRCh38
NC_000006.11:g.64694589_64694590insAG , CM000668.1:g.64694589_64694590insAG	GRCh37
NC_000006.10:g.64752548_64752549insAG	NCBI36
NG_023443.1:g.1727529_1727530insCT
NG_023443.2:g.1727529_1727530insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-94_6835-93insCT MANE Select	ENSP00000424243.1:n.6835-94_6835-93insCT
ENST00000370616.6:c.6835-94_6835-93insCT	ENSP00000359650.2:n.6835-94_6835-93insCT
ENST00000370618.7:c.6835-94_6835-93insCT	ENSP00000359652.4:n.6835-94_6835-93insCT
ENST00000370621.7:c.6835-94_6835-93insCT	ENSP00000359655.3:n.6835-94_6835-93insCT
ENST00000398580.3:c.149-94_149-93insCT
ENST00000503581.5:c.6835-94_6835-93insCT	ENSP00000424243.1:n.6835-94_6835-93insCT
NM_001142800.1:c.6835-94_6835-93insCT	NP_001136272.1:n.6835-94_6835-93insCT
NM_001292009.1:c.6835-94_6835-93insCT	NP_001278938.1:n.6835-94_6835-93insCT
XR_001744188.1:n.606+16412_606+16413insAG
XR_001744189.1:n.129+16412_129+16413insAG
XR_001744190.1:n.197+16412_197+16413insAG
XR_001744191.1:n.607-958_607-957insAG
NM_001142800.2:c.6835-94_6835-93insCT MANE Select	NP_001136272.1:n.6835-94_6835-93insCT
NM_001292009.2:c.6835-94_6835-93insCT	NP_001278938.1:n.6835-94_6835-93insCT