Canonical Allele Identifier: CA2771459632

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788266_63788267insCCAAACACACCC , CM000668.2:g.63788266_63788267insCCAAACACACCC	GRCh38
NC_000006.11:g.64498159_64498160insCCAAACACACCC , CM000668.1:g.64498159_64498160insCCAAACACACCC	GRCh37
NC_000006.10:g.64556118_64556119insCCAAACACACCC	NCBI36
NG_023443.1:g.1923959_1923960insGGGTGTGTTTGG
NG_023443.2:g.1923959_1923960insGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7579-18_7579-17insGGGTGTGTTTGG MANE Select	ENSP00000424243.1:n.7579-18_7579-17insGGGTGTGTTTGG
ENST00000370616.6:c.7579-18_7579-17insGGGTGTGTTTGG	ENSP00000359650.2:n.7579-18_7579-17insGGGTGTGTTTGG
ENST00000370618.7:c.7579-18_7579-17insGGGTGTGTTTGG	ENSP00000359652.4:n.7579-18_7579-17insGGGTGTGTTTGG
ENST00000370621.7:c.7579-18_7579-17insGGGTGTGTTTGG	ENSP00000359655.3:n.7579-18_7579-17insGGGTGTGTTTGG
ENST00000398580.3:c.893-18_893-17insGGGTGTGTTTGG
ENST00000486069.1:n.219-18_219-17insGGGTGTGTTTGG
ENST00000503581.5:c.7579-18_7579-17insGGGTGTGTTTGG	ENSP00000424243.1:n.7579-18_7579-17insGGGTGTGTTTGG
NM_001142800.1:c.7579-18_7579-17insGGGTGTGTTTGG	NP_001136272.1:n.7579-18_7579-17insGGGTGTGTTTGG
NM_001292009.1:c.7579-18_7579-17insGGGTGTGTTTGG	NP_001278938.1:n.7579-18_7579-17insGGGTGTGTTTGG
NM_001142800.2:c.7579-18_7579-17insGGGTGTGTTTGG MANE Select	NP_001136272.1:n.7579-18_7579-17insGGGTGTGTTTGG
NM_001292009.2:c.7579-18_7579-17insGGGTGTGTTTGG	NP_001278938.1:n.7579-18_7579-17insGGGTGTGTTTGG