Canonical Allele Identifier: CA1633415778

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788316_63788318delinsCTT , CM000668.2:g.63788316_63788318delinsCTT	GRCh38
NC_000006.11:g.64498209_64498211delinsCTT , CM000668.1:g.64498209_64498211delinsCTT	GRCh37
NC_000006.10:g.64556168_64556170delinsCTT	NCBI36
NG_023443.1:g.1923908_1923910delinsAAG
NG_023443.2:g.1923908_1923910delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7579-69_7579-67delinsAAG MANE Select	ENSP00000424243.1:n.7579-69_7579-67delinsAAG
ENST00000370616.6:c.7579-69_7579-67delinsAAG	ENSP00000359650.2:n.7579-69_7579-67delinsAAG
ENST00000370618.7:c.7579-69_7579-67delinsAAG	ENSP00000359652.4:n.7579-69_7579-67delinsAAG
ENST00000370621.7:c.7579-69_7579-67delinsAAG	ENSP00000359655.3:n.7579-69_7579-67delinsAAG
ENST00000398580.3:c.893-69_893-67delinsAAG
ENST00000486069.1:n.219-69_219-67delinsAAG
ENST00000503581.5:c.7579-69_7579-67delinsAAG	ENSP00000424243.1:n.7579-69_7579-67delinsAAG
NM_001142800.1:c.7579-69_7579-67delinsAAG	NP_001136272.1:n.7579-69_7579-67delinsAAG
NM_001292009.1:c.7579-69_7579-67delinsAAG	NP_001278938.1:n.7579-69_7579-67delinsAAG
NM_001142800.2:c.7579-69_7579-67delinsAAG MANE Select	NP_001136272.1:n.7579-69_7579-67delinsAAG
NM_001292009.2:c.7579-69_7579-67delinsAAG	NP_001278938.1:n.7579-69_7579-67delinsAAG