Canonical Allele Identifier: CA2578660042

Gene: EYS

Linked Data

• gnomAD v4: 6-64230665-G-GATGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230674_64230678dup , CM000668.2:g.64230674_64230678dup	GRCh38
NC_000006.11:g.64940567_64940571dup , CM000668.1:g.64940567_64940571dup	GRCh37
NC_000006.10:g.64998526_64998530dup	NCBI36
NG_023443.1:g.1481556_1481560dup
NG_023443.2:g.1481556_1481560dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6346_6350dup MANE Select	ENSP00000424243.1:p.Ile2117MetfsTer9
ENST00000370616.6:c.6346_6350dup	ENSP00000359650.2:p.Ile2117MetfsTer9
ENST00000370618.7:c.6346_6350dup	ENSP00000359652.4:p.Ile2117MetfsTer9
ENST00000370621.7:c.6346_6350dup	ENSP00000359655.3:p.Ile2117MetfsTer9
ENST00000503581.5:c.6346_6350dup	ENSP00000424243.1:p.Ile2117MetfsTer9
NM_001142800.1:c.6346_6350dup	NP_001136272.1:p.Ile2117MetfsTer9
NM_001292009.1:c.6346_6350dup	NP_001278938.1:p.Ile2117MetfsTer9
NM_001142800.2:c.6346_6350dup MANE Select	NP_001136272.1:p.Ile2117MetfsTer9
NM_001292009.2:c.6346_6350dup	NP_001278938.1:p.Ile2117MetfsTer9