Canonical Allele Identifier: CA2771464275

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984751_63984752insAGAA , CM000668.2:g.63984751_63984752insAGAA	GRCh38
NC_000006.11:g.64694644_64694645insAGAA , CM000668.1:g.64694644_64694645insAGAA	GRCh37
NC_000006.10:g.64752603_64752604insAGAA	NCBI36
NG_023443.1:g.1727474_1727475insTTCT
NG_023443.2:g.1727474_1727475insTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-149_6835-148insTTCT MANE Select	ENSP00000424243.1:n.6835-149_6835-148insTTCT
ENST00000370616.6:c.6835-149_6835-148insTTCT	ENSP00000359650.2:n.6835-149_6835-148insTTCT
ENST00000370618.7:c.6835-149_6835-148insTTCT	ENSP00000359652.4:n.6835-149_6835-148insTTCT
ENST00000370621.7:c.6835-149_6835-148insTTCT	ENSP00000359655.3:n.6835-149_6835-148insTTCT
ENST00000398580.3:c.149-149_149-148insTTCT
ENST00000503581.5:c.6835-149_6835-148insTTCT	ENSP00000424243.1:n.6835-149_6835-148insTTCT
NM_001142800.1:c.6835-149_6835-148insTTCT	NP_001136272.1:n.6835-149_6835-148insTTCT
NM_001292009.1:c.6835-149_6835-148insTTCT	NP_001278938.1:n.6835-149_6835-148insTTCT
XR_001744188.1:n.606+16467_606+16468insAGAA
XR_001744189.1:n.129+16467_129+16468insAGAA
XR_001744190.1:n.197+16467_197+16468insAGAA
XR_001744191.1:n.607-903_607-902insAGAA
NM_001142800.2:c.6835-149_6835-148insTTCT MANE Select	NP_001136272.1:n.6835-149_6835-148insTTCT
NM_001292009.2:c.6835-149_6835-148insTTCT	NP_001278938.1:n.6835-149_6835-148insTTCT