Canonical Allele Identifier: CA2771464197

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984653_63984654insACA , CM000668.2:g.63984653_63984654insACA	GRCh38
NC_000006.11:g.64694546_64694547insACA , CM000668.1:g.64694546_64694547insACA	GRCh37
NC_000006.10:g.64752505_64752506insACA	NCBI36
NG_023443.1:g.1727572_1727573insTGT
NG_023443.2:g.1727572_1727573insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-51_6835-50insTGT MANE Select	ENSP00000424243.1:n.6835-51_6835-50insTGT
ENST00000370616.6:c.6835-51_6835-50insTGT	ENSP00000359650.2:n.6835-51_6835-50insTGT
ENST00000370618.7:c.6835-51_6835-50insTGT	ENSP00000359652.4:n.6835-51_6835-50insTGT
ENST00000370621.7:c.6835-51_6835-50insTGT	ENSP00000359655.3:n.6835-51_6835-50insTGT
ENST00000398580.3:c.149-51_149-50insTGT
ENST00000503581.5:c.6835-51_6835-50insTGT	ENSP00000424243.1:n.6835-51_6835-50insTGT
NM_001142800.1:c.6835-51_6835-50insTGT	NP_001136272.1:n.6835-51_6835-50insTGT
NM_001292009.1:c.6835-51_6835-50insTGT	NP_001278938.1:n.6835-51_6835-50insTGT
XR_001744188.1:n.606+16369_606+16370insACA
XR_001744189.1:n.129+16369_129+16370insACA
XR_001744190.1:n.197+16369_197+16370insACA
XR_001744191.1:n.607-1001_607-1000insACA
NM_001142800.2:c.6835-51_6835-50insTGT MANE Select	NP_001136272.1:n.6835-51_6835-50insTGT
NM_001292009.2:c.6835-51_6835-50insTGT	NP_001278938.1:n.6835-51_6835-50insTGT