Canonical Allele Identifier: CA2771464212

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984663_63984664insA , CM000668.2:g.63984663_63984664insA	GRCh38
NC_000006.11:g.64694556_64694557insA , CM000668.1:g.64694556_64694557insA	GRCh37
NC_000006.10:g.64752515_64752516insA	NCBI36
NG_023443.1:g.1727562_1727563insT
NG_023443.2:g.1727562_1727563insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-61_6835-60insT MANE Select	ENSP00000424243.1:n.6835-61_6835-60insT
ENST00000370616.6:c.6835-61_6835-60insT	ENSP00000359650.2:n.6835-61_6835-60insT
ENST00000370618.7:c.6835-61_6835-60insT	ENSP00000359652.4:n.6835-61_6835-60insT
ENST00000370621.7:c.6835-61_6835-60insT	ENSP00000359655.3:n.6835-61_6835-60insT
ENST00000398580.3:c.149-61_149-60insT
ENST00000503581.5:c.6835-61_6835-60insT	ENSP00000424243.1:n.6835-61_6835-60insT
NM_001142800.1:c.6835-61_6835-60insT	NP_001136272.1:n.6835-61_6835-60insT
NM_001292009.1:c.6835-61_6835-60insT	NP_001278938.1:n.6835-61_6835-60insT
XR_001744188.1:n.606+16379_606+16380insA
XR_001744189.1:n.129+16379_129+16380insA
XR_001744190.1:n.197+16379_197+16380insA
XR_001744191.1:n.607-991_607-990insA
NM_001142800.2:c.6835-61_6835-60insT MANE Select	NP_001136272.1:n.6835-61_6835-60insT
NM_001292009.2:c.6835-61_6835-60insT	NP_001278938.1:n.6835-61_6835-60insT