Canonical Allele Identifier: CA2771459763

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788421_63788424del , CM000668.2:g.63788421_63788424del	GRCh38
NC_000006.11:g.64498314_64498317del , CM000668.1:g.64498314_64498317del	GRCh37
NC_000006.10:g.64556273_64556276del	NCBI36
NG_023443.1:g.1923802_1923805del
NG_023443.2:g.1923802_1923805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7579-175_7579-172del MANE Select	ENSP00000424243.1:n.7579-175_7579-172del
ENST00000370616.6:c.7579-175_7579-172del	ENSP00000359650.2:n.7579-175_7579-172del
ENST00000370618.7:c.7579-175_7579-172del	ENSP00000359652.4:n.7579-175_7579-172del
ENST00000370621.7:c.7579-175_7579-172del	ENSP00000359655.3:n.7579-175_7579-172del
ENST00000398580.3:c.893-175_893-172del
ENST00000486069.1:n.219-175_219-172del
ENST00000503581.5:c.7579-175_7579-172del	ENSP00000424243.1:n.7579-175_7579-172del
NM_001142800.1:c.7579-175_7579-172del	NP_001136272.1:n.7579-175_7579-172del
NM_001292009.1:c.7579-175_7579-172del	NP_001278938.1:n.7579-175_7579-172del
NM_001142800.2:c.7579-175_7579-172del MANE Select	NP_001136272.1:n.7579-175_7579-172del
NM_001292009.2:c.7579-175_7579-172del	NP_001278938.1:n.7579-175_7579-172del