Canonical Allele Identifier: CA2771464239

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984694_63984697del , CM000668.2:g.63984694_63984697del	GRCh38
NC_000006.11:g.64694587_64694590del , CM000668.1:g.64694587_64694590del	GRCh37
NC_000006.10:g.64752546_64752549del	NCBI36
NG_023443.1:g.1727529_1727532del
NG_023443.2:g.1727529_1727532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-94_6835-91del MANE Select	ENSP00000424243.1:n.6835-94_6835-91del
ENST00000370616.6:c.6835-94_6835-91del	ENSP00000359650.2:n.6835-94_6835-91del
ENST00000370618.7:c.6835-94_6835-91del	ENSP00000359652.4:n.6835-94_6835-91del
ENST00000370621.7:c.6835-94_6835-91del	ENSP00000359655.3:n.6835-94_6835-91del
ENST00000398580.3:c.149-94_149-91del
ENST00000503581.5:c.6835-94_6835-91del	ENSP00000424243.1:n.6835-94_6835-91del
NM_001142800.1:c.6835-94_6835-91del	NP_001136272.1:n.6835-94_6835-91del
NM_001292009.1:c.6835-94_6835-91del	NP_001278938.1:n.6835-94_6835-91del
XR_001744188.1:n.606+16410_606+16413del
XR_001744189.1:n.129+16410_129+16413del
XR_001744190.1:n.197+16410_197+16413del
XR_001744191.1:n.607-960_607-957del
NM_001142800.2:c.6835-94_6835-91del MANE Select	NP_001136272.1:n.6835-94_6835-91del
NM_001292009.2:c.6835-94_6835-91del	NP_001278938.1:n.6835-94_6835-91del