Canonical Allele Identifier: CA2771464191

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984649_63984650insAC , CM000668.2:g.63984649_63984650insAC	GRCh38
NC_000006.11:g.64694542_64694543insAC , CM000668.1:g.64694542_64694543insAC	GRCh37
NC_000006.10:g.64752501_64752502insAC	NCBI36
NG_023443.1:g.1727576_1727577insGT
NG_023443.2:g.1727576_1727577insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-47_6835-46insGT MANE Select	ENSP00000424243.1:n.6835-47_6835-46insGT
ENST00000370616.6:c.6835-47_6835-46insGT	ENSP00000359650.2:n.6835-47_6835-46insGT
ENST00000370618.7:c.6835-47_6835-46insGT	ENSP00000359652.4:n.6835-47_6835-46insGT
ENST00000370621.7:c.6835-47_6835-46insGT	ENSP00000359655.3:n.6835-47_6835-46insGT
ENST00000398580.3:c.149-47_149-46insGT
ENST00000503581.5:c.6835-47_6835-46insGT	ENSP00000424243.1:n.6835-47_6835-46insGT
NM_001142800.1:c.6835-47_6835-46insGT	NP_001136272.1:n.6835-47_6835-46insGT
NM_001292009.1:c.6835-47_6835-46insGT	NP_001278938.1:n.6835-47_6835-46insGT
XR_001744188.1:n.606+16365_606+16366insAC
XR_001744189.1:n.129+16365_129+16366insAC
XR_001744190.1:n.197+16365_197+16366insAC
XR_001744191.1:n.607-1005_607-1004insAC
NM_001142800.2:c.6835-47_6835-46insGT MANE Select	NP_001136272.1:n.6835-47_6835-46insGT
NM_001292009.2:c.6835-47_6835-46insGT	NP_001278938.1:n.6835-47_6835-46insGT