Canonical Allele Identifier: CA827010911

Gene: EYS

Linked Data

• dbSNP Id: rs1331901417
• MyVariant Identifiers: chr6:g.64694582_64694591del (hg19) ; chr6:g.63984689_63984698del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984698_63984707del , CM000668.2:g.63984698_63984707del	GRCh38
NC_000006.11:g.64694591_64694600del , CM000668.1:g.64694591_64694600del	GRCh37
NC_000006.10:g.64752550_64752559del	NCBI36
NG_023443.1:g.1727528_1727537del
NG_023443.2:g.1727528_1727537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-95_6835-86del MANE Select	ENSP00000424243.1:n.6835-95_6835-86del
ENST00000370616.6:c.6835-95_6835-86del	ENSP00000359650.2:n.6835-95_6835-86del
ENST00000370618.7:c.6835-95_6835-86del	ENSP00000359652.4:n.6835-95_6835-86del
ENST00000370621.7:c.6835-95_6835-86del	ENSP00000359655.3:n.6835-95_6835-86del
ENST00000398580.3:c.149-95_149-86del
ENST00000503581.5:c.6835-95_6835-86del	ENSP00000424243.1:n.6835-95_6835-86del
NM_001142800.1:c.6835-95_6835-86del	NP_001136272.1:n.6835-95_6835-86del
NM_001292009.1:c.6835-95_6835-86del	NP_001278938.1:n.6835-95_6835-86del
XR_001744188.1:n.606+16414_606+16423del
XR_001744189.1:n.129+16414_129+16423del
XR_001744190.1:n.197+16414_197+16423del
XR_001744191.1:n.607-956_607-947del
NM_001142800.2:c.6835-95_6835-86del MANE Select	NP_001136272.1:n.6835-95_6835-86del
NM_001292009.2:c.6835-95_6835-86del	NP_001278938.1:n.6835-95_6835-86del