Canonical Allele Identifier: CA568119118

Gene: EYS

Linked Data

• dbSNP Id: rs1420766056
• gnomAD v2: 6-64940600-GC-G
• gnomAD v4: 6-64230707-GC-G
• MyVariant Identifiers: chr6:g.64940601del (hg19) ; chr6:g.64230708del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230708del , CM000668.2:g.64230708del	GRCh38
NC_000006.11:g.64940601del , CM000668.1:g.64940601del	GRCh37
NC_000006.10:g.64998560del	NCBI36
NG_023443.1:g.1481518del
NG_023443.2:g.1481518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6308del MANE Select	ENSP00000424243.1:p.Cys2103SerfsTer21
ENST00000370616.6:c.6308del	ENSP00000359650.2:p.Cys2103SerfsTer21
ENST00000370618.7:c.6308del	ENSP00000359652.4:p.Cys2103SerfsTer21
ENST00000370621.7:c.6308del	ENSP00000359655.3:p.Cys2103SerfsTer21
ENST00000503581.5:c.6308del	ENSP00000424243.1:p.Cys2103SerfsTer21
NM_001142800.1:c.6308del	NP_001136272.1:p.Cys2103SerfsTer21
NM_001292009.1:c.6308del	NP_001278938.1:p.Cys2103SerfsTer21
NM_001142800.2:c.6308del MANE Select	NP_001136272.1:p.Cys2103SerfsTer21
NM_001292009.2:c.6308del	NP_001278938.1:p.Cys2103SerfsTer21