Canonical Allele Identifier: CA1633415653

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788045_63788046delinsAT , CM000668.2:g.63788045_63788046delinsAT	GRCh38
NC_000006.11:g.64497938_64497939delinsAT , CM000668.1:g.64497938_64497939delinsAT	GRCh37
NC_000006.10:g.64555897_64555898delinsAT	NCBI36
NG_023443.1:g.1924180_1924181delinsAT
NG_023443.2:g.1924180_1924181delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7723+59_7723+60delinsAT MANE Select	ENSP00000424243.1:n.7723+59_7723+60delinsAT
ENST00000370616.6:c.7723+59_7723+60delinsAT	ENSP00000359650.2:n.7723+59_7723+60delinsAT
ENST00000370618.7:c.7723+59_7723+60delinsAT	ENSP00000359652.4:n.7723+59_7723+60delinsAT
ENST00000370621.7:c.7723+59_7723+60delinsAT	ENSP00000359655.3:n.7723+59_7723+60delinsAT
ENST00000398580.3:c.1037+59_1037+60delinsAT
ENST00000486069.1:n.363+59_363+60delinsAT
ENST00000503581.5:c.7723+59_7723+60delinsAT	ENSP00000424243.1:n.7723+59_7723+60delinsAT
NM_001142800.1:c.7723+59_7723+60delinsAT	NP_001136272.1:n.7723+59_7723+60delinsAT
NM_001292009.1:c.7723+59_7723+60delinsAT	NP_001278938.1:n.7723+59_7723+60delinsAT
NM_001142800.2:c.7723+59_7723+60delinsAT MANE Select	NP_001136272.1:n.7723+59_7723+60delinsAT
NM_001292009.2:c.7723+59_7723+60delinsAT	NP_001278938.1:n.7723+59_7723+60delinsAT