Canonical Allele Identifier: CA1633415823

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788418_63788422delinsTGTTA , CM000668.2:g.63788418_63788422delinsTGTTA	GRCh38
NC_000006.11:g.64498311_64498315delinsTGTTA , CM000668.1:g.64498311_64498315delinsTGTTA	GRCh37
NC_000006.10:g.64556270_64556274delinsTGTTA	NCBI36
NG_023443.1:g.1923804_1923808delinsTAACA
NG_023443.2:g.1923804_1923808delinsTAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7579-173_7579-169delinsTAACA MANE Select	ENSP00000424243.1:n.7579-173_7579-169delinsTAACA
ENST00000370616.6:c.7579-173_7579-169delinsTAACA	ENSP00000359650.2:n.7579-173_7579-169delinsTAACA
ENST00000370618.7:c.7579-173_7579-169delinsTAACA	ENSP00000359652.4:n.7579-173_7579-169delinsTAACA
ENST00000370621.7:c.7579-173_7579-169delinsTAACA	ENSP00000359655.3:n.7579-173_7579-169delinsTAACA
ENST00000398580.3:c.893-173_893-169delinsTAACA
ENST00000486069.1:n.219-173_219-169delinsTAACA
ENST00000503581.5:c.7579-173_7579-169delinsTAACA	ENSP00000424243.1:n.7579-173_7579-169delinsTAACA
NM_001142800.1:c.7579-173_7579-169delinsTAACA	NP_001136272.1:n.7579-173_7579-169delinsTAACA
NM_001292009.1:c.7579-173_7579-169delinsTAACA	NP_001278938.1:n.7579-173_7579-169delinsTAACA
NM_001142800.2:c.7579-173_7579-169delinsTAACA MANE Select	NP_001136272.1:n.7579-173_7579-169delinsTAACA
NM_001292009.2:c.7579-173_7579-169delinsTAACA	NP_001278938.1:n.7579-173_7579-169delinsTAACA