Canonical Allele Identifier: CA2679283466

Gene: EYS

Linked Data

• ClinVar Variation Id: 2761739
• ClinVar RCV Id: RCV003567782
• gnomAD v4: 6-64230600-CAGAAGCGGCCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230601_64230612del , CM000668.2:g.64230601_64230612del	GRCh38
NC_000006.11:g.64940494_64940505del , CM000668.1:g.64940494_64940505del	GRCh37
NC_000006.10:g.64998453_64998464del	NCBI36
NG_023443.1:g.1481614_1481625del
NG_023443.2:g.1481614_1481625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6404_6415del MANE Select	ENSP00000424243.1:p.Thr2135_Cys2139delinsSer
ENST00000370616.6:c.6404_6415del	ENSP00000359650.2:p.Thr2135_Cys2139delinsSer
ENST00000370618.7:c.6404_6415del	ENSP00000359652.4:p.Thr2135_Cys2139delinsSer
ENST00000370621.7:c.6404_6415del	ENSP00000359655.3:p.Thr2135_Cys2139delinsSer
ENST00000503581.5:c.6404_6415del	ENSP00000424243.1:p.Thr2135_Cys2139delinsSer
NM_001142800.1:c.6404_6415del	NP_001136272.1:p.Thr2135_Cys2139delinsSer
NM_001292009.1:c.6404_6415del	NP_001278938.1:p.Thr2135_Cys2139delinsSer
NM_001142800.2:c.6404_6415del MANE Select	NP_001136272.1:p.Thr2135_Cys2139delinsSer
NM_001292009.2:c.6404_6415del	NP_001278938.1:p.Thr2135_Cys2139delinsSer