Canonical Allele Identifier: CA2771464188

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984648_63984649del , CM000668.2:g.63984648_63984649del	GRCh38
NC_000006.11:g.64694541_64694542del , CM000668.1:g.64694541_64694542del	GRCh37
NC_000006.10:g.64752500_64752501del	NCBI36
NG_023443.1:g.1727577_1727578del
NG_023443.2:g.1727577_1727578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-46_6835-45del MANE Select	ENSP00000424243.1:n.6835-46_6835-45del
ENST00000370616.6:c.6835-46_6835-45del	ENSP00000359650.2:n.6835-46_6835-45del
ENST00000370618.7:c.6835-46_6835-45del	ENSP00000359652.4:n.6835-46_6835-45del
ENST00000370621.7:c.6835-46_6835-45del	ENSP00000359655.3:n.6835-46_6835-45del
ENST00000398580.3:c.149-46_149-45del
ENST00000503581.5:c.6835-46_6835-45del	ENSP00000424243.1:n.6835-46_6835-45del
NM_001142800.1:c.6835-46_6835-45del	NP_001136272.1:n.6835-46_6835-45del
NM_001292009.1:c.6835-46_6835-45del	NP_001278938.1:n.6835-46_6835-45del
XR_001744188.1:n.606+16364_606+16365del
XR_001744189.1:n.129+16364_129+16365del
XR_001744190.1:n.197+16364_197+16365del
XR_001744191.1:n.607-1006_607-1005del
NM_001142800.2:c.6835-46_6835-45del MANE Select	NP_001136272.1:n.6835-46_6835-45del
NM_001292009.2:c.6835-46_6835-45del	NP_001278938.1:n.6835-46_6835-45del