Canonical Allele Identifier: CA2771469899
Gene: EYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.64230933_64230934insA , CM000668.2:g.64230933_64230934insA GRCh38
NC_000006.11:g.64940826_64940827insA , CM000668.1:g.64940826_64940827insA GRCh37
NC_000006.10:g.64998785_64998786insA NCBI36
NG_023443.1:g.1481292_1481293insT
NG_023443.2:g.1481292_1481293insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000503581.6:c.6192-110_6192-109insT MANE Select ENSP00000424243.1:n.6192-110_6192-109insT
ENST00000370616.6:c.6192-110_6192-109insT ENSP00000359650.2:n.6192-110_6192-109insT
ENST00000370618.7:c.6192-110_6192-109insT ENSP00000359652.4:n.6192-110_6192-109insT
ENST00000370621.7:c.6192-110_6192-109insT ENSP00000359655.3:n.6192-110_6192-109insT
ENST00000503581.5:c.6192-110_6192-109insT ENSP00000424243.1:n.6192-110_6192-109insT
NM_001142800.1:c.6192-110_6192-109insT NP_001136272.1:n.6192-110_6192-109insT
NM_001292009.1:c.6192-110_6192-109insT NP_001278938.1:n.6192-110_6192-109insT
NM_001142800.2:c.6192-110_6192-109insT MANE Select NP_001136272.1:n.6192-110_6192-109insT
NM_001292009.2:c.6192-110_6192-109insT NP_001278938.1:n.6192-110_6192-109insT