Canonical Allele Identifier: CA140397889

Gene: EYS

Linked Data

• dbSNP Id: rs759330066
• gnomAD v4: 6-65057473-GT-G
• MyVariant Identifiers: chr6:g.65767367del (hg19) ; chr6:g.65057474del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.65057475del , CM000668.2:g.65057475del	GRCh38
NC_000006.11:g.65767368del , CM000668.1:g.65767368del	GRCh37
NC_000006.10:g.65824089del	NCBI36
NG_023443.1:g.654752del
NG_023443.2:g.654752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.2137+140del MANE Select	ENSP00000424243.1:n.2137+140del
ENST00000370616.6:c.2137+140del	ENSP00000359650.2:n.2137+140del
ENST00000370618.7:c.2137+140del	ENSP00000359652.4:n.2137+140del
ENST00000370621.7:c.2137+140del	ENSP00000359655.3:n.2137+140del
ENST00000503581.5:c.2137+140del	ENSP00000424243.1:n.2137+140del
NM_001142800.1:c.2137+140del	NP_001136272.1:n.2137+140del
NM_001292009.1:c.2137+140del	NP_001278938.1:n.2137+140del
NM_001142800.2:c.2137+140del MANE Select	NP_001136272.1:n.2137+140del
NM_001292009.2:c.2137+140del	NP_001278938.1:n.2137+140del