Canonical Allele Identifier: CA2771464174

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984639_63984640insACAG , CM000668.2:g.63984639_63984640insACAG	GRCh38
NC_000006.11:g.64694532_64694533insACAG , CM000668.1:g.64694532_64694533insACAG	GRCh37
NC_000006.10:g.64752491_64752492insACAG	NCBI36
NG_023443.1:g.1727586_1727587insCTGT
NG_023443.2:g.1727586_1727587insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-37_6835-36insCTGT MANE Select	ENSP00000424243.1:n.6835-37_6835-36insCTGT
ENST00000370616.6:c.6835-37_6835-36insCTGT	ENSP00000359650.2:n.6835-37_6835-36insCTGT
ENST00000370618.7:c.6835-37_6835-36insCTGT	ENSP00000359652.4:n.6835-37_6835-36insCTGT
ENST00000370621.7:c.6835-37_6835-36insCTGT	ENSP00000359655.3:n.6835-37_6835-36insCTGT
ENST00000398580.3:c.149-37_149-36insCTGT
ENST00000503581.5:c.6835-37_6835-36insCTGT	ENSP00000424243.1:n.6835-37_6835-36insCTGT
NM_001142800.1:c.6835-37_6835-36insCTGT	NP_001136272.1:n.6835-37_6835-36insCTGT
NM_001292009.1:c.6835-37_6835-36insCTGT	NP_001278938.1:n.6835-37_6835-36insCTGT
XR_001744188.1:n.606+16355_606+16356insACAG
XR_001744189.1:n.129+16355_129+16356insACAG
XR_001744190.1:n.197+16355_197+16356insACAG
XR_001744191.1:n.607-1015_607-1014insACAG
NM_001142800.2:c.6835-37_6835-36insCTGT MANE Select	NP_001136272.1:n.6835-37_6835-36insCTGT
NM_001292009.2:c.6835-37_6835-36insCTGT	NP_001278938.1:n.6835-37_6835-36insCTGT