Canonical Allele Identifier: CA2771464219

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984677_63984678insAGA , CM000668.2:g.63984677_63984678insAGA	GRCh38
NC_000006.11:g.64694570_64694571insAGA , CM000668.1:g.64694570_64694571insAGA	GRCh37
NC_000006.10:g.64752529_64752530insAGA	NCBI36
NG_023443.1:g.1727548_1727549insTCT
NG_023443.2:g.1727548_1727549insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-75_6835-74insTCT MANE Select	ENSP00000424243.1:n.6835-75_6835-74insTCT
ENST00000370616.6:c.6835-75_6835-74insTCT	ENSP00000359650.2:n.6835-75_6835-74insTCT
ENST00000370618.7:c.6835-75_6835-74insTCT	ENSP00000359652.4:n.6835-75_6835-74insTCT
ENST00000370621.7:c.6835-75_6835-74insTCT	ENSP00000359655.3:n.6835-75_6835-74insTCT
ENST00000398580.3:c.149-75_149-74insTCT
ENST00000503581.5:c.6835-75_6835-74insTCT	ENSP00000424243.1:n.6835-75_6835-74insTCT
NM_001142800.1:c.6835-75_6835-74insTCT	NP_001136272.1:n.6835-75_6835-74insTCT
NM_001292009.1:c.6835-75_6835-74insTCT	NP_001278938.1:n.6835-75_6835-74insTCT
XR_001744188.1:n.606+16393_606+16394insAGA
XR_001744189.1:n.129+16393_129+16394insAGA
XR_001744190.1:n.197+16393_197+16394insAGA
XR_001744191.1:n.607-977_607-976insAGA
NM_001142800.2:c.6835-75_6835-74insTCT MANE Select	NP_001136272.1:n.6835-75_6835-74insTCT
NM_001292009.2:c.6835-75_6835-74insTCT	NP_001278938.1:n.6835-75_6835-74insTCT