Canonical Allele Identifier: CA2679282327

Gene: EYS

Linked Data

• gnomAD v4: 6-63984620-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984622_63984623del , CM000668.2:g.63984622_63984623del	GRCh38
NC_000006.11:g.64694515_64694516del , CM000668.1:g.64694515_64694516del	GRCh37
NC_000006.10:g.64752474_64752475del	NCBI36
NG_023443.1:g.1727604_1727605del
NG_023443.2:g.1727604_1727605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-19_6835-18del MANE Select	ENSP00000424243.1:n.6835-19_6835-18del
ENST00000370616.6:c.6835-19_6835-18del	ENSP00000359650.2:n.6835-19_6835-18del
ENST00000370618.7:c.6835-19_6835-18del	ENSP00000359652.4:n.6835-19_6835-18del
ENST00000370621.7:c.6835-19_6835-18del	ENSP00000359655.3:n.6835-19_6835-18del
ENST00000398580.3:c.149-19_149-18del
ENST00000503581.5:c.6835-19_6835-18del	ENSP00000424243.1:n.6835-19_6835-18del
NM_001142800.1:c.6835-19_6835-18del	NP_001136272.1:n.6835-19_6835-18del
NM_001292009.1:c.6835-19_6835-18del	NP_001278938.1:n.6835-19_6835-18del
XR_001744188.1:n.606+16338_606+16339del
XR_001744189.1:n.129+16338_129+16339del
XR_001744190.1:n.197+16338_197+16339del
XR_001744191.1:n.607-1032_607-1031del
NM_001142800.2:c.6835-19_6835-18del MANE Select	NP_001136272.1:n.6835-19_6835-18del
NM_001292009.2:c.6835-19_6835-18del	NP_001278938.1:n.6835-19_6835-18del