Canonical Allele Identifier: CA2771464259

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984708_63984709insACC , CM000668.2:g.63984708_63984709insACC	GRCh38
NC_000006.11:g.64694601_64694602insACC , CM000668.1:g.64694601_64694602insACC	GRCh37
NC_000006.10:g.64752560_64752561insACC	NCBI36
NG_023443.1:g.1727517_1727518insGGT
NG_023443.2:g.1727517_1727518insGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-106_6835-105insGGT MANE Select	ENSP00000424243.1:n.6835-106_6835-105insGGT
ENST00000370616.6:c.6835-106_6835-105insGGT	ENSP00000359650.2:n.6835-106_6835-105insGGT
ENST00000370618.7:c.6835-106_6835-105insGGT	ENSP00000359652.4:n.6835-106_6835-105insGGT
ENST00000370621.7:c.6835-106_6835-105insGGT	ENSP00000359655.3:n.6835-106_6835-105insGGT
ENST00000398580.3:c.149-106_149-105insGGT
ENST00000503581.5:c.6835-106_6835-105insGGT	ENSP00000424243.1:n.6835-106_6835-105insGGT
NM_001142800.1:c.6835-106_6835-105insGGT	NP_001136272.1:n.6835-106_6835-105insGGT
NM_001292009.1:c.6835-106_6835-105insGGT	NP_001278938.1:n.6835-106_6835-105insGGT
XR_001744188.1:n.606+16424_606+16425insACC
XR_001744189.1:n.129+16424_129+16425insACC
XR_001744190.1:n.197+16424_197+16425insACC
XR_001744191.1:n.607-946_607-945insACC
NM_001142800.2:c.6835-106_6835-105insGGT MANE Select	NP_001136272.1:n.6835-106_6835-105insGGT
NM_001292009.2:c.6835-106_6835-105insGGT	NP_001278938.1:n.6835-106_6835-105insGGT