Canonical Allele Identifier: CA2771469827

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230834_64230835insCT , CM000668.2:g.64230834_64230835insCT	GRCh38
NC_000006.11:g.64940727_64940728insCT , CM000668.1:g.64940727_64940728insCT	GRCh37
NC_000006.10:g.64998686_64998687insCT	NCBI36
NG_023443.1:g.1481391_1481392insAG
NG_023443.2:g.1481391_1481392insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6192-11_6192-10insAG MANE Select	ENSP00000424243.1:n.6192-11_6192-10insAG
ENST00000370616.6:c.6192-11_6192-10insAG	ENSP00000359650.2:n.6192-11_6192-10insAG
ENST00000370618.7:c.6192-11_6192-10insAG	ENSP00000359652.4:n.6192-11_6192-10insAG
ENST00000370621.7:c.6192-11_6192-10insAG	ENSP00000359655.3:n.6192-11_6192-10insAG
ENST00000503581.5:c.6192-11_6192-10insAG	ENSP00000424243.1:n.6192-11_6192-10insAG
NM_001142800.1:c.6192-11_6192-10insAG	NP_001136272.1:n.6192-11_6192-10insAG
NM_001292009.1:c.6192-11_6192-10insAG	NP_001278938.1:n.6192-11_6192-10insAG
NM_001142800.2:c.6192-11_6192-10insAG MANE Select	NP_001136272.1:n.6192-11_6192-10insAG
NM_001292009.2:c.6192-11_6192-10insAG	NP_001278938.1:n.6192-11_6192-10insAG