Canonical Allele Identifier: CA827005701

Gene: EYS

Linked Data

• dbSNP Id: rs1475435049
• gnomAD v3: 6-64230903-A-AT
• gnomAD v4: 6-64230903-A-AT
• MyVariant Identifiers: chr6:g.64940796_64940797insT (hg19) ; chr6:g.64230903_64230904insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230906dup , CM000668.2:g.64230906dup	GRCh38
NC_000006.11:g.64940799dup , CM000668.1:g.64940799dup	GRCh37
NC_000006.10:g.64998758dup	NCBI36
NG_023443.1:g.1481322dup
NG_023443.2:g.1481322dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6192-80dup MANE Select	ENSP00000424243.1:n.6192-80dup
ENST00000370616.6:c.6192-80dup	ENSP00000359650.2:n.6192-80dup
ENST00000370618.7:c.6192-80dup	ENSP00000359652.4:n.6192-80dup
ENST00000370621.7:c.6192-80dup	ENSP00000359655.3:n.6192-80dup
ENST00000503581.5:c.6192-80dup	ENSP00000424243.1:n.6192-80dup
NM_001142800.1:c.6192-80dup	NP_001136272.1:n.6192-80dup
NM_001292009.1:c.6192-80dup	NP_001278938.1:n.6192-80dup
NM_001142800.2:c.6192-80dup MANE Select	NP_001136272.1:n.6192-80dup
NM_001292009.2:c.6192-80dup	NP_001278938.1:n.6192-80dup