Canonical Allele Identifier: CA2771464217

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984675_63984676insAGA , CM000668.2:g.63984675_63984676insAGA	GRCh38
NC_000006.11:g.64694568_64694569insAGA , CM000668.1:g.64694568_64694569insAGA	GRCh37
NC_000006.10:g.64752527_64752528insAGA	NCBI36
NG_023443.1:g.1727550_1727551insTCT
NG_023443.2:g.1727550_1727551insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-73_6835-72insTCT MANE Select	ENSP00000424243.1:n.6835-73_6835-72insTCT
ENST00000370616.6:c.6835-73_6835-72insTCT	ENSP00000359650.2:n.6835-73_6835-72insTCT
ENST00000370618.7:c.6835-73_6835-72insTCT	ENSP00000359652.4:n.6835-73_6835-72insTCT
ENST00000370621.7:c.6835-73_6835-72insTCT	ENSP00000359655.3:n.6835-73_6835-72insTCT
ENST00000398580.3:c.149-73_149-72insTCT
ENST00000503581.5:c.6835-73_6835-72insTCT	ENSP00000424243.1:n.6835-73_6835-72insTCT
NM_001142800.1:c.6835-73_6835-72insTCT	NP_001136272.1:n.6835-73_6835-72insTCT
NM_001292009.1:c.6835-73_6835-72insTCT	NP_001278938.1:n.6835-73_6835-72insTCT
XR_001744188.1:n.606+16391_606+16392insAGA
XR_001744189.1:n.129+16391_129+16392insAGA
XR_001744190.1:n.197+16391_197+16392insAGA
XR_001744191.1:n.607-979_607-978insAGA
NM_001142800.2:c.6835-73_6835-72insTCT MANE Select	NP_001136272.1:n.6835-73_6835-72insTCT
NM_001292009.2:c.6835-73_6835-72insTCT	NP_001278938.1:n.6835-73_6835-72insTCT