Canonical Allele Identifier: CA2771469859

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230876_64230877insAGT , CM000668.2:g.64230876_64230877insAGT	GRCh38
NC_000006.11:g.64940769_64940770insAGT , CM000668.1:g.64940769_64940770insAGT	GRCh37
NC_000006.10:g.64998728_64998729insAGT	NCBI36
NG_023443.1:g.1481349_1481350insACT
NG_023443.2:g.1481349_1481350insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6192-53_6192-52insACT MANE Select	ENSP00000424243.1:n.6192-53_6192-52insACT
ENST00000370616.6:c.6192-53_6192-52insACT	ENSP00000359650.2:n.6192-53_6192-52insACT
ENST00000370618.7:c.6192-53_6192-52insACT	ENSP00000359652.4:n.6192-53_6192-52insACT
ENST00000370621.7:c.6192-53_6192-52insACT	ENSP00000359655.3:n.6192-53_6192-52insACT
ENST00000503581.5:c.6192-53_6192-52insACT	ENSP00000424243.1:n.6192-53_6192-52insACT
NM_001142800.1:c.6192-53_6192-52insACT	NP_001136272.1:n.6192-53_6192-52insACT
NM_001292009.1:c.6192-53_6192-52insACT	NP_001278938.1:n.6192-53_6192-52insACT
NM_001142800.2:c.6192-53_6192-52insACT MANE Select	NP_001136272.1:n.6192-53_6192-52insACT
NM_001292009.2:c.6192-53_6192-52insACT	NP_001278938.1:n.6192-53_6192-52insACT