Canonical Allele Identifier: CA2679282320

Gene: EYS

Linked Data

• gnomAD v4: 6-63984533-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984534del , CM000668.2:g.63984534del	GRCh38
NC_000006.11:g.64694427del , CM000668.1:g.64694427del	GRCh37
NC_000006.10:g.64752386del	NCBI36
NG_023443.1:g.1727692del
NG_023443.2:g.1727692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6904del MANE Select	ENSP00000424243.1:p.Val2302PhefsTer9
ENST00000370616.6:c.6904del	ENSP00000359650.2:p.Val2302PhefsTer9
ENST00000370618.7:c.6904del	ENSP00000359652.4:p.Val2302PhefsTer9
ENST00000370621.7:c.6904del	ENSP00000359655.3:p.Val2302PhefsTer9
ENST00000398580.3:c.218del
ENST00000503581.5:c.6904del	ENSP00000424243.1:p.Val2302PhefsTer9
NM_001142800.1:c.6904del	NP_001136272.1:p.Val2302PhefsTer9
NM_001292009.1:c.6904del	NP_001278938.1:p.Val2302PhefsTer9
XR_001744188.1:n.606+16250del
XR_001744189.1:n.129+16250del
XR_001744190.1:n.197+16250del
XR_001744191.1:n.607-1120del
NM_001142800.2:c.6904del MANE Select	NP_001136272.1:p.Val2302PhefsTer9
NM_001292009.2:c.6904del	NP_001278938.1:p.Val2302PhefsTer9