Canonical Allele Identifier: CA2771464193

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984652_63984653insACA , CM000668.2:g.63984652_63984653insACA	GRCh38
NC_000006.11:g.64694545_64694546insACA , CM000668.1:g.64694545_64694546insACA	GRCh37
NC_000006.10:g.64752504_64752505insACA	NCBI36
NG_023443.1:g.1727573_1727574insTGT
NG_023443.2:g.1727573_1727574insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-50_6835-49insTGT MANE Select	ENSP00000424243.1:n.6835-50_6835-49insTGT
ENST00000370616.6:c.6835-50_6835-49insTGT	ENSP00000359650.2:n.6835-50_6835-49insTGT
ENST00000370618.7:c.6835-50_6835-49insTGT	ENSP00000359652.4:n.6835-50_6835-49insTGT
ENST00000370621.7:c.6835-50_6835-49insTGT	ENSP00000359655.3:n.6835-50_6835-49insTGT
ENST00000398580.3:c.149-50_149-49insTGT
ENST00000503581.5:c.6835-50_6835-49insTGT	ENSP00000424243.1:n.6835-50_6835-49insTGT
NM_001142800.1:c.6835-50_6835-49insTGT	NP_001136272.1:n.6835-50_6835-49insTGT
NM_001292009.1:c.6835-50_6835-49insTGT	NP_001278938.1:n.6835-50_6835-49insTGT
XR_001744188.1:n.606+16368_606+16369insACA
XR_001744189.1:n.129+16368_129+16369insACA
XR_001744190.1:n.197+16368_197+16369insACA
XR_001744191.1:n.607-1002_607-1001insACA
NM_001142800.2:c.6835-50_6835-49insTGT MANE Select	NP_001136272.1:n.6835-50_6835-49insTGT
NM_001292009.2:c.6835-50_6835-49insTGT	NP_001278938.1:n.6835-50_6835-49insTGT