Canonical Allele Identifier: CA140243949

Gene: EYS

Linked Data

• dbSNP Id: rs35778886
• gnomAD v2: 6-64498167-T-TA
• gnomAD v3: 6-63788274-T-TA
• gnomAD v4: 6-63788274-T-TA
• MyVariant Identifiers: chr6:g.64498167_64498168insA (hg19) ; chr6:g.63788274_63788275insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788280dup , CM000668.2:g.63788280dup	GRCh38
NC_000006.11:g.64498173dup , CM000668.1:g.64498173dup	GRCh37
NC_000006.10:g.64556132dup	NCBI36
NG_023443.1:g.1923951dup
NG_023443.2:g.1923951dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7579-26dup MANE Select	ENSP00000424243.1:n.7579-26dup
ENST00000370616.6:c.7579-26dup	ENSP00000359650.2:n.7579-26dup
ENST00000370618.7:c.7579-26dup	ENSP00000359652.4:n.7579-26dup
ENST00000370621.7:c.7579-26dup	ENSP00000359655.3:n.7579-26dup
ENST00000398580.3:c.893-26dup
ENST00000486069.1:n.219-26dup
ENST00000503581.5:c.7579-26dup	ENSP00000424243.1:n.7579-26dup
NM_001142800.1:c.7579-26dup	NP_001136272.1:n.7579-26dup
NM_001292009.1:c.7579-26dup	NP_001278938.1:n.7579-26dup
NM_001142800.2:c.7579-26dup MANE Select	NP_001136272.1:n.7579-26dup
NM_001292009.2:c.7579-26dup	NP_001278938.1:n.7579-26dup