Canonical Allele Identifier: CA2679298296

Gene: EYS

Linked Data

• gnomAD v4: 6-63788053-C-CCCTCAACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788054_63788062dup , CM000668.2:g.63788054_63788062dup	GRCh38
NC_000006.11:g.64497947_64497955dup , CM000668.1:g.64497947_64497955dup	GRCh37
NC_000006.10:g.64555906_64555914dup	NCBI36
NG_023443.1:g.1924164_1924172dup
NG_023443.2:g.1924164_1924172dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7723+43_7723+51dup MANE Select	ENSP00000424243.1:n.7723+43_7723+51dup
ENST00000370616.6:c.7723+43_7723+51dup	ENSP00000359650.2:n.7723+43_7723+51dup
ENST00000370618.7:c.7723+43_7723+51dup	ENSP00000359652.4:n.7723+43_7723+51dup
ENST00000370621.7:c.7723+43_7723+51dup	ENSP00000359655.3:n.7723+43_7723+51dup
ENST00000398580.3:c.1037+43_1037+51dup
ENST00000486069.1:n.363+43_363+51dup
ENST00000503581.5:c.7723+43_7723+51dup	ENSP00000424243.1:n.7723+43_7723+51dup
NM_001142800.1:c.7723+43_7723+51dup	NP_001136272.1:n.7723+43_7723+51dup
NM_001292009.1:c.7723+43_7723+51dup	NP_001278938.1:n.7723+43_7723+51dup
NM_001142800.2:c.7723+43_7723+51dup MANE Select	NP_001136272.1:n.7723+43_7723+51dup
NM_001292009.2:c.7723+43_7723+51dup	NP_001278938.1:n.7723+43_7723+51dup