Canonical Allele Identifier: CA1633415747

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788250_63788251delinsCT , CM000668.2:g.63788250_63788251delinsCT	GRCh38
NC_000006.11:g.64498143_64498144delinsCT , CM000668.1:g.64498143_64498144delinsCT	GRCh37
NC_000006.10:g.64556102_64556103delinsCT	NCBI36
NG_023443.1:g.1923975_1923976delinsAG
NG_023443.2:g.1923975_1923976delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7579-2_7579-1delinsAG MANE Select	ENSP00000424243.1:n.7579-2_7579-1delinsAG
ENST00000370616.6:c.7579-2_7579-1delinsAG	ENSP00000359650.2:n.7579-2_7579-1delinsAG
ENST00000370618.7:c.7579-2_7579-1delinsAG	ENSP00000359652.4:n.7579-2_7579-1delinsAG
ENST00000370621.7:c.7579-2_7579-1delinsAG	ENSP00000359655.3:n.7579-2_7579-1delinsAG
ENST00000398580.3:c.893-2_893-1delinsAG
ENST00000486069.1:n.219-2_219-1delinsAG
ENST00000503581.5:c.7579-2_7579-1delinsAG	ENSP00000424243.1:n.7579-2_7579-1delinsAG
NM_001142800.1:c.7579-2_7579-1delinsAG	NP_001136272.1:n.7579-2_7579-1delinsAG
NM_001292009.1:c.7579-2_7579-1delinsAG	NP_001278938.1:n.7579-2_7579-1delinsAG
NM_001142800.2:c.7579-2_7579-1delinsAG MANE Select	NP_001136272.1:n.7579-2_7579-1delinsAG
NM_001292009.2:c.7579-2_7579-1delinsAG	NP_001278938.1:n.7579-2_7579-1delinsAG