Canonical Allele Identifier: CA1089794844

Gene: EYS

Linked Data

• dbSNP Id: rs1770412255
• gnomAD v3: 6-63788084-TA-T
• gnomAD v4: 6-63788084-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788090del , CM000668.2:g.63788090del	GRCh38
NC_000006.11:g.64497983del , CM000668.1:g.64497983del	GRCh37
NC_000006.10:g.64555942del	NCBI36
NG_023443.1:g.1924141del
NG_023443.2:g.1924141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7723+20del MANE Select	ENSP00000424243.1:n.7723+20del
ENST00000370616.6:c.7723+20del	ENSP00000359650.2:n.7723+20del
ENST00000370618.7:c.7723+20del	ENSP00000359652.4:n.7723+20del
ENST00000370621.7:c.7723+20del	ENSP00000359655.3:n.7723+20del
ENST00000398580.3:c.1037+20del
ENST00000486069.1:n.363+20del
ENST00000503581.5:c.7723+20del	ENSP00000424243.1:n.7723+20del
NM_001142800.1:c.7723+20del	NP_001136272.1:n.7723+20del
NM_001292009.1:c.7723+20del	NP_001278938.1:n.7723+20del
NM_001142800.2:c.7723+20del MANE Select	NP_001136272.1:n.7723+20del
NM_001292009.2:c.7723+20del	NP_001278938.1:n.7723+20del