Canonical Allele Identifier: CA2679282336

Gene: EYS

Linked Data

• gnomAD v4: 6-63984634-TAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984635_63984637del , CM000668.2:g.63984635_63984637del	GRCh38
NC_000006.11:g.64694528_64694530del , CM000668.1:g.64694528_64694530del	GRCh37
NC_000006.10:g.64752487_64752489del	NCBI36
NG_023443.1:g.1727589_1727591del
NG_023443.2:g.1727589_1727591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-34_6835-32del MANE Select	ENSP00000424243.1:n.6835-34_6835-32del
ENST00000370616.6:c.6835-34_6835-32del	ENSP00000359650.2:n.6835-34_6835-32del
ENST00000370618.7:c.6835-34_6835-32del	ENSP00000359652.4:n.6835-34_6835-32del
ENST00000370621.7:c.6835-34_6835-32del	ENSP00000359655.3:n.6835-34_6835-32del
ENST00000398580.3:c.149-34_149-32del
ENST00000503581.5:c.6835-34_6835-32del	ENSP00000424243.1:n.6835-34_6835-32del
NM_001142800.1:c.6835-34_6835-32del	NP_001136272.1:n.6835-34_6835-32del
NM_001292009.1:c.6835-34_6835-32del	NP_001278938.1:n.6835-34_6835-32del
XR_001744188.1:n.606+16351_606+16353del
XR_001744189.1:n.129+16351_129+16353del
XR_001744190.1:n.197+16351_197+16353del
XR_001744191.1:n.607-1019_607-1017del
NM_001142800.2:c.6835-34_6835-32del MANE Select	NP_001136272.1:n.6835-34_6835-32del
NM_001292009.2:c.6835-34_6835-32del	NP_001278938.1:n.6835-34_6835-32del