Canonical Allele Identifier: CA2771464256

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984706_63984707insA , CM000668.2:g.63984706_63984707insA	GRCh38
NC_000006.11:g.64694599_64694600insA , CM000668.1:g.64694599_64694600insA	GRCh37
NC_000006.10:g.64752558_64752559insA	NCBI36
NG_023443.1:g.1727519_1727520insT
NG_023443.2:g.1727519_1727520insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-104_6835-103insT MANE Select	ENSP00000424243.1:n.6835-104_6835-103insT
ENST00000370616.6:c.6835-104_6835-103insT	ENSP00000359650.2:n.6835-104_6835-103insT
ENST00000370618.7:c.6835-104_6835-103insT	ENSP00000359652.4:n.6835-104_6835-103insT
ENST00000370621.7:c.6835-104_6835-103insT	ENSP00000359655.3:n.6835-104_6835-103insT
ENST00000398580.3:c.149-104_149-103insT
ENST00000503581.5:c.6835-104_6835-103insT	ENSP00000424243.1:n.6835-104_6835-103insT
NM_001142800.1:c.6835-104_6835-103insT	NP_001136272.1:n.6835-104_6835-103insT
NM_001292009.1:c.6835-104_6835-103insT	NP_001278938.1:n.6835-104_6835-103insT
XR_001744188.1:n.606+16422_606+16423insA
XR_001744189.1:n.129+16422_129+16423insA
XR_001744190.1:n.197+16422_197+16423insA
XR_001744191.1:n.607-948_607-947insA
NM_001142800.2:c.6835-104_6835-103insT MANE Select	NP_001136272.1:n.6835-104_6835-103insT
NM_001292009.2:c.6835-104_6835-103insT	NP_001278938.1:n.6835-104_6835-103insT