Canonical Allele Identifier: CA2771464162

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984581_63984582del , CM000668.2:g.63984581_63984582del	GRCh38
NC_000006.11:g.64694474_64694475del , CM000668.1:g.64694474_64694475del	GRCh37
NC_000006.10:g.64752433_64752434del	NCBI36
NG_023443.1:g.1727644_1727645del
NG_023443.2:g.1727644_1727645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6856_6857del MANE Select	ENSP00000424243.1:p.Leu2286TrpfsTer11
ENST00000370616.6:c.6856_6857del	ENSP00000359650.2:p.Leu2286TrpfsTer11
ENST00000370618.7:c.6856_6857del	ENSP00000359652.4:p.Leu2286TrpfsTer11
ENST00000370621.7:c.6856_6857del	ENSP00000359655.3:p.Leu2286TrpfsTer11
ENST00000398580.3:c.170_171del
ENST00000503581.5:c.6856_6857del	ENSP00000424243.1:p.Leu2286TrpfsTer11
NM_001142800.1:c.6856_6857del	NP_001136272.1:p.Leu2286TrpfsTer11
NM_001292009.1:c.6856_6857del	NP_001278938.1:p.Leu2286TrpfsTer11
XR_001744188.1:n.606+16297_606+16298del
XR_001744189.1:n.129+16297_129+16298del
XR_001744190.1:n.197+16297_197+16298del
XR_001744191.1:n.607-1073_607-1072del
NM_001142800.2:c.6856_6857del MANE Select	NP_001136272.1:p.Leu2286TrpfsTer11
NM_001292009.2:c.6856_6857del	NP_001278938.1:p.Leu2286TrpfsTer11