Canonical Allele Identifier: CA2578660041

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230597_64230598del , CM000668.2:g.64230597_64230598del	GRCh38
NC_000006.11:g.64940490_64940491del , CM000668.1:g.64940490_64940491del	GRCh37
NC_000006.10:g.64998449_64998450del	NCBI36
NG_023443.1:g.1481628_1481629del
NG_023443.2:g.1481628_1481629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6418_6419del MANE Select	ENSP00000424243.1:p.Glu2140LysfsTer30
ENST00000370616.6:c.6418_6419del	ENSP00000359650.2:p.Glu2140LysfsTer30
ENST00000370618.7:c.6418_6419del	ENSP00000359652.4:p.Glu2140LysfsTer30
ENST00000370621.7:c.6418_6419del	ENSP00000359655.3:p.Glu2140LysfsTer30
ENST00000503581.5:c.6418_6419del	ENSP00000424243.1:p.Glu2140LysfsTer30
NM_001142800.1:c.6418_6419del	NP_001136272.1:p.Glu2140LysfsTer30
NM_001292009.1:c.6418_6419del	NP_001278938.1:p.Glu2140LysfsTer30
NM_001142800.2:c.6418_6419del MANE Select	NP_001136272.1:p.Glu2140LysfsTer30
NM_001292009.2:c.6418_6419del	NP_001278938.1:p.Glu2140LysfsTer30