Canonical Allele Identifier: CA1633626668

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230707_64230708delinsGC , CM000668.2:g.64230707_64230708delinsGC	GRCh38
NC_000006.11:g.64940600_64940601delinsGC , CM000668.1:g.64940600_64940601delinsGC	GRCh37
NC_000006.10:g.64998559_64998560delinsGC	NCBI36
NG_023443.1:g.1481518_1481519delinsGC
NG_023443.2:g.1481518_1481519delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6308_6309delinsGC MANE Select	ENSP00000424243.1:p.Cys2103=
ENST00000370616.6:c.6308_6309delinsGC	ENSP00000359650.2:p.Cys2103=
ENST00000370618.7:c.6308_6309delinsGC	ENSP00000359652.4:p.Cys2103=
ENST00000370621.7:c.6308_6309delinsGC	ENSP00000359655.3:p.Cys2103=
ENST00000503581.5:c.6308_6309delinsGC	ENSP00000424243.1:p.Cys2103=
NM_001142800.1:c.6308_6309delinsGC	NP_001136272.1:p.Cys2103=
NM_001292009.1:c.6308_6309delinsGC	NP_001278938.1:p.Cys2103=
NM_001142800.2:c.6308_6309delinsGC MANE Select	NP_001136272.1:p.Cys2103=
NM_001292009.2:c.6308_6309delinsGC	NP_001278938.1:p.Cys2103=