Canonical Allele Identifier: CA2771464255

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984703_63984717del , CM000668.2:g.63984703_63984717del	GRCh38
NC_000006.11:g.64694596_64694610del , CM000668.1:g.64694596_64694610del	GRCh37
NC_000006.10:g.64752555_64752569del	NCBI36
NG_023443.1:g.1727509_1727523del
NG_023443.2:g.1727509_1727523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-114_6835-100del MANE Select	ENSP00000424243.1:n.6835-114_6835-100del
ENST00000370616.6:c.6835-114_6835-100del	ENSP00000359650.2:n.6835-114_6835-100del
ENST00000370618.7:c.6835-114_6835-100del	ENSP00000359652.4:n.6835-114_6835-100del
ENST00000370621.7:c.6835-114_6835-100del	ENSP00000359655.3:n.6835-114_6835-100del
ENST00000398580.3:c.149-114_149-100del
ENST00000503581.5:c.6835-114_6835-100del	ENSP00000424243.1:n.6835-114_6835-100del
NM_001142800.1:c.6835-114_6835-100del	NP_001136272.1:n.6835-114_6835-100del
NM_001292009.1:c.6835-114_6835-100del	NP_001278938.1:n.6835-114_6835-100del
XR_001744188.1:n.606+16419_606+16433del
XR_001744189.1:n.129+16419_129+16433del
XR_001744190.1:n.197+16419_197+16433del
XR_001744191.1:n.607-951_607-937del
NM_001142800.2:c.6835-114_6835-100del MANE Select	NP_001136272.1:n.6835-114_6835-100del
NM_001292009.2:c.6835-114_6835-100del	NP_001278938.1:n.6835-114_6835-100del