Canonical Allele Identifier: CA2499218456

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64593099_64593100insA , CM000668.2:g.64593099_64593100insA	GRCh38
NC_000006.11:g.65302992_65302993insA , CM000668.1:g.65302992_65302993insA	GRCh37
NC_000006.10:g.65359713_65359714insA	NCBI36
NG_023443.1:g.1119126_1119127insT
NG_023443.2:g.1119126_1119127insT

Transcript Alleles

HGVS	Amino-acid Change
NM_001142800.2:c.3877+17_3877+18insT MANE Select	NP_001136272.1:n.3877+17_3877+18insT
ENST00000503581.6:c.3877+17_3877+18insT MANE Select	ENSP00000424243.1:n.3877+17_3877+18insT
NM_001142800.1:c.3877+17_3877+18insT	NP_001136272.1:n.3877+17_3877+18insT
NM_001292009.1:c.3877+17_3877+18insT	NP_001278938.1:n.3877+17_3877+18insT
NM_001292009.2:c.3877+17_3877+18insT	NP_001278938.1:n.3877+17_3877+18insT
ENST00000370616.6:c.3877+17_3877+18insT	ENSP00000359650.2:n.3877+17_3877+18insT
ENST00000370618.7:c.3877+17_3877+18insT	ENSP00000359652.4:n.3877+17_3877+18insT
ENST00000370621.7:c.3877+17_3877+18insT	ENSP00000359655.3:n.3877+17_3877+18insT
ENST00000503581.5:c.3877+17_3877+18insT	ENSP00000424243.1:n.3877+17_3877+18insT