Canonical Allele Identifier: CA1633415714

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788163_63788164delinsGT , CM000668.2:g.63788163_63788164delinsGT	GRCh38
NC_000006.11:g.64498056_64498057delinsGT , CM000668.1:g.64498056_64498057delinsGT	GRCh37
NC_000006.10:g.64556015_64556016delinsGT	NCBI36
NG_023443.1:g.1924062_1924063delinsAC
NG_023443.2:g.1924062_1924063delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7664_7665delinsAC MANE Select	ENSP00000424243.1:p.Tyr2555=
ENST00000370616.6:c.7664_7665delinsAC	ENSP00000359650.2:p.Tyr2555=
ENST00000370618.7:c.7664_7665delinsAC	ENSP00000359652.4:p.Tyr2555=
ENST00000370621.7:c.7664_7665delinsAC	ENSP00000359655.3:p.Tyr2555=
ENST00000398580.3:c.978_979delinsAC
ENST00000486069.1:n.304_305delinsAC
ENST00000503581.5:c.7664_7665delinsAC	ENSP00000424243.1:p.Tyr2555=
NM_001142800.1:c.7664_7665delinsAC	NP_001136272.1:p.Tyr2555=
NM_001292009.1:c.7664_7665delinsAC	NP_001278938.1:p.Tyr2555=
NM_001142800.2:c.7664_7665delinsAC MANE Select	NP_001136272.1:p.Tyr2555=
NM_001292009.2:c.7664_7665delinsAC	NP_001278938.1:p.Tyr2555=