Canonical Allele Identifier: CA2771464235

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984690_63984691insAGG , CM000668.2:g.63984690_63984691insAGG	GRCh38
NC_000006.11:g.64694583_64694584insAGG , CM000668.1:g.64694583_64694584insAGG	GRCh37
NC_000006.10:g.64752542_64752543insAGG	NCBI36
NG_023443.1:g.1727535_1727536insCCT
NG_023443.2:g.1727535_1727536insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-88_6835-87insCCT MANE Select	ENSP00000424243.1:n.6835-88_6835-87insCCT
ENST00000370616.6:c.6835-88_6835-87insCCT	ENSP00000359650.2:n.6835-88_6835-87insCCT
ENST00000370618.7:c.6835-88_6835-87insCCT	ENSP00000359652.4:n.6835-88_6835-87insCCT
ENST00000370621.7:c.6835-88_6835-87insCCT	ENSP00000359655.3:n.6835-88_6835-87insCCT
ENST00000398580.3:c.149-88_149-87insCCT
ENST00000503581.5:c.6835-88_6835-87insCCT	ENSP00000424243.1:n.6835-88_6835-87insCCT
NM_001142800.1:c.6835-88_6835-87insCCT	NP_001136272.1:n.6835-88_6835-87insCCT
NM_001292009.1:c.6835-88_6835-87insCCT	NP_001278938.1:n.6835-88_6835-87insCCT
XR_001744188.1:n.606+16406_606+16407insAGG
XR_001744189.1:n.129+16406_129+16407insAGG
XR_001744190.1:n.197+16406_197+16407insAGG
XR_001744191.1:n.607-964_607-963insAGG
NM_001142800.2:c.6835-88_6835-87insCCT MANE Select	NP_001136272.1:n.6835-88_6835-87insCCT
NM_001292009.2:c.6835-88_6835-87insCCT	NP_001278938.1:n.6835-88_6835-87insCCT