Canonical Allele Identifier: CA1633415764

Gene: EYS

Linked Data

• dbSNP Id: rs1770419898

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788279_63788280insTGGTTTTCA , CM000668.2:g.63788279_63788280insTGGTTTTCA	GRCh38
NC_000006.11:g.64498172_64498173insTGGTTTTCA , CM000668.1:g.64498172_64498173insTGGTTTTCA	GRCh37
NC_000006.10:g.64556131_64556132insTGGTTTTCA	NCBI36
NG_023443.1:g.1923947_1923948insGAAAACCAT
NG_023443.2:g.1923947_1923948insGAAAACCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7579-30_7579-29insGAAAACCAT MANE Select	ENSP00000424243.1:n.7579-30_7579-29insGAAAACCAT
ENST00000370616.6:c.7579-30_7579-29insGAAAACCAT	ENSP00000359650.2:n.7579-30_7579-29insGAAAACCAT
ENST00000370618.7:c.7579-30_7579-29insGAAAACCAT	ENSP00000359652.4:n.7579-30_7579-29insGAAAACCAT
ENST00000370621.7:c.7579-30_7579-29insGAAAACCAT	ENSP00000359655.3:n.7579-30_7579-29insGAAAACCAT
ENST00000398580.3:c.893-30_893-29insGAAAACCAT
ENST00000486069.1:n.219-30_219-29insGAAAACCAT
ENST00000503581.5:c.7579-30_7579-29insGAAAACCAT	ENSP00000424243.1:n.7579-30_7579-29insGAAAACCAT
NM_001142800.1:c.7579-30_7579-29insGAAAACCAT	NP_001136272.1:n.7579-30_7579-29insGAAAACCAT
NM_001292009.1:c.7579-30_7579-29insGAAAACCAT	NP_001278938.1:n.7579-30_7579-29insGAAAACCAT
NM_001142800.2:c.7579-30_7579-29insGAAAACCAT MANE Select	NP_001136272.1:n.7579-30_7579-29insGAAAACCAT
NM_001292009.2:c.7579-30_7579-29insGAAAACCAT	NP_001278938.1:n.7579-30_7579-29insGAAAACCAT