Canonical Allele Identifier: CA1633626669

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230710_64230725delinsCACAGAGGGTGCTGCA , CM000668.2:g.64230710_64230725delinsCACAGAGGGTGCTGCA	GRCh38
NC_000006.11:g.64940603_64940618delinsCACAGAGGGTGCTGCA , CM000668.1:g.64940603_64940618delinsCACAGAGGGTGCTGCA	GRCh37
NC_000006.10:g.64998562_64998577delinsCACAGAGGGTGCTGCA	NCBI36
NG_023443.1:g.1481501_1481516delinsTGCAGCACCCTCTGTG
NG_023443.2:g.1481501_1481516delinsTGCAGCACCCTCTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6291_6306delinsTGCAGCACCCTCTGTG MANE Select	ENSP00000424243.1:p.Val2097=
ENST00000370616.6:c.6291_6306delinsTGCAGCACCCTCTGTG	ENSP00000359650.2:p.Val2097=
ENST00000370618.7:c.6291_6306delinsTGCAGCACCCTCTGTG	ENSP00000359652.4:p.Val2097=
ENST00000370621.7:c.6291_6306delinsTGCAGCACCCTCTGTG	ENSP00000359655.3:p.Val2097=
ENST00000503581.5:c.6291_6306delinsTGCAGCACCCTCTGTG	ENSP00000424243.1:p.Val2097=
NM_001142800.1:c.6291_6306delinsTGCAGCACCCTCTGTG	NP_001136272.1:p.Val2097=
NM_001292009.1:c.6291_6306delinsTGCAGCACCCTCTGTG	NP_001278938.1:p.Val2097=
NM_001142800.2:c.6291_6306delinsTGCAGCACCCTCTGTG MANE Select	NP_001136272.1:p.Val2097=
NM_001292009.2:c.6291_6306delinsTGCAGCACCCTCTGTG	NP_001278938.1:p.Val2097=