Canonical Allele Identifier: CA2679298331

Gene: EYS

Linked Data

• gnomAD v4: 6-63788179-AACTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788185_63788188del , CM000668.2:g.63788185_63788188del	GRCh38
NC_000006.11:g.64498078_64498081del , CM000668.1:g.64498078_64498081del	GRCh37
NC_000006.10:g.64556037_64556040del	NCBI36
NG_023443.1:g.1924043_1924046del
NG_023443.2:g.1924043_1924046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7645_7648del MANE Select	ENSP00000424243.1:p.Gln2549PhefsTer3
ENST00000370616.6:c.7645_7648del	ENSP00000359650.2:p.Gln2549PhefsTer3
ENST00000370618.7:c.7645_7648del	ENSP00000359652.4:p.Gln2549PhefsTer3
ENST00000370621.7:c.7645_7648del	ENSP00000359655.3:p.Gln2549PhefsTer3
ENST00000398580.3:c.959_962del
ENST00000486069.1:n.285_288del
ENST00000503581.5:c.7645_7648del	ENSP00000424243.1:p.Gln2549PhefsTer3
NM_001142800.1:c.7645_7648del	NP_001136272.1:p.Gln2549PhefsTer3
NM_001292009.1:c.7645_7648del	NP_001278938.1:p.Gln2549PhefsTer3
NM_001142800.2:c.7645_7648del MANE Select	NP_001136272.1:p.Gln2549PhefsTer3
NM_001292009.2:c.7645_7648del	NP_001278938.1:p.Gln2549PhefsTer3