Canonical Allele Identifier: CA2679298311

Gene: EYS

Linked Data

• gnomAD v4: 6-63788068-ATAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788071_63788074del , CM000668.2:g.63788071_63788074del	GRCh38
NC_000006.11:g.64497964_64497967del , CM000668.1:g.64497964_64497967del	GRCh37
NC_000006.10:g.64555923_64555926del	NCBI36
NG_023443.1:g.1924154_1924157del
NG_023443.2:g.1924154_1924157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7723+33_7723+36del MANE Select	ENSP00000424243.1:n.7723+33_7723+36del
ENST00000370616.6:c.7723+33_7723+36del	ENSP00000359650.2:n.7723+33_7723+36del
ENST00000370618.7:c.7723+33_7723+36del	ENSP00000359652.4:n.7723+33_7723+36del
ENST00000370621.7:c.7723+33_7723+36del	ENSP00000359655.3:n.7723+33_7723+36del
ENST00000398580.3:c.1037+33_1037+36del
ENST00000486069.1:n.363+33_363+36del
ENST00000503581.5:c.7723+33_7723+36del	ENSP00000424243.1:n.7723+33_7723+36del
NM_001142800.1:c.7723+33_7723+36del	NP_001136272.1:n.7723+33_7723+36del
NM_001292009.1:c.7723+33_7723+36del	NP_001278938.1:n.7723+33_7723+36del
NM_001142800.2:c.7723+33_7723+36del MANE Select	NP_001136272.1:n.7723+33_7723+36del
NM_001292009.2:c.7723+33_7723+36del	NP_001278938.1:n.7723+33_7723+36del