Canonical Allele Identifier: CA2679298334

Gene: EYS

Linked Data

• gnomAD v4: 6-63788256-A-ATTGTGTGTGTGTGTGTGTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788256_63788257insTTGTGTGTGTGTGTGTGTGTT , CM000668.2:g.63788256_63788257insTTGTGTGTGTGTGTGTGTGTT	GRCh38
NC_000006.11:g.64498149_64498150insTTGTGTGTGTGTGTGTGTGTT , CM000668.1:g.64498149_64498150insTTGTGTGTGTGTGTGTGTGTT	GRCh37
NC_000006.10:g.64556108_64556109insTTGTGTGTGTGTGTGTGTGTT	NCBI36
NG_023443.1:g.1923969_1923970insAACACACACACACACACACAA
NG_023443.2:g.1923969_1923970insAACACACACACACACACACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7579-8_7579-7insAACACACACACACACACACAA MANE Select	ENSP00000424243.1:n.7579-8_7579-7insAACACACACACACACACACAA
ENST00000370616.6:c.7579-8_7579-7insAACACACACACACACACACAA	ENSP00000359650.2:n.7579-8_7579-7insAACACACACACACACACACAA
ENST00000370618.7:c.7579-8_7579-7insAACACACACACACACACACAA	ENSP00000359652.4:n.7579-8_7579-7insAACACACACACACACACACAA
ENST00000370621.7:c.7579-8_7579-7insAACACACACACACACACACAA	ENSP00000359655.3:n.7579-8_7579-7insAACACACACACACACACACAA
ENST00000398580.3:c.893-8_893-7insAACACACACACACACACACAA
ENST00000486069.1:n.219-8_219-7insAACACACACACACACACACAA
ENST00000503581.5:c.7579-8_7579-7insAACACACACACACACACACAA	ENSP00000424243.1:n.7579-8_7579-7insAACACACACACACACACACAA
NM_001142800.1:c.7579-8_7579-7insAACACACACACACACACACAA	NP_001136272.1:n.7579-8_7579-7insAACACACACACACACACACAA
NM_001292009.1:c.7579-8_7579-7insAACACACACACACACACACAA	NP_001278938.1:n.7579-8_7579-7insAACACACACACACACACACAA
NM_001142800.2:c.7579-8_7579-7insAACACACACACACACACACAA MANE Select	NP_001136272.1:n.7579-8_7579-7insAACACACACACACACACACAA
NM_001292009.2:c.7579-8_7579-7insAACACACACACACACACACAA	NP_001278938.1:n.7579-8_7579-7insAACACACACACACACACACAA