Canonical Allele Identifier: CA2771464176

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984640_63984641insAC , CM000668.2:g.63984640_63984641insAC	GRCh38
NC_000006.11:g.64694533_64694534insAC , CM000668.1:g.64694533_64694534insAC	GRCh37
NC_000006.10:g.64752492_64752493insAC	NCBI36
NG_023443.1:g.1727585_1727586insGT
NG_023443.2:g.1727585_1727586insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-38_6835-37insGT MANE Select	ENSP00000424243.1:n.6835-38_6835-37insGT
ENST00000370616.6:c.6835-38_6835-37insGT	ENSP00000359650.2:n.6835-38_6835-37insGT
ENST00000370618.7:c.6835-38_6835-37insGT	ENSP00000359652.4:n.6835-38_6835-37insGT
ENST00000370621.7:c.6835-38_6835-37insGT	ENSP00000359655.3:n.6835-38_6835-37insGT
ENST00000398580.3:c.149-38_149-37insGT
ENST00000503581.5:c.6835-38_6835-37insGT	ENSP00000424243.1:n.6835-38_6835-37insGT
NM_001142800.1:c.6835-38_6835-37insGT	NP_001136272.1:n.6835-38_6835-37insGT
NM_001292009.1:c.6835-38_6835-37insGT	NP_001278938.1:n.6835-38_6835-37insGT
XR_001744188.1:n.606+16356_606+16357insAC
XR_001744189.1:n.129+16356_129+16357insAC
XR_001744190.1:n.197+16356_197+16357insAC
XR_001744191.1:n.607-1014_607-1013insAC
NM_001142800.2:c.6835-38_6835-37insGT MANE Select	NP_001136272.1:n.6835-38_6835-37insGT
NM_001292009.2:c.6835-38_6835-37insGT	NP_001278938.1:n.6835-38_6835-37insGT