Canonical Allele Identifier: CA2679298302

Gene: EYS

Linked Data

• gnomAD v4: 6-63788057-CAACATTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788058_63788064del , CM000668.2:g.63788058_63788064del	GRCh38
NC_000006.11:g.64497951_64497957del , CM000668.1:g.64497951_64497957del	GRCh37
NC_000006.10:g.64555910_64555916del	NCBI36
NG_023443.1:g.1924162_1924168del
NG_023443.2:g.1924162_1924168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7723+41_7723+47del MANE Select	ENSP00000424243.1:n.7723+41_7723+47del
ENST00000370616.6:c.7723+41_7723+47del	ENSP00000359650.2:n.7723+41_7723+47del
ENST00000370618.7:c.7723+41_7723+47del	ENSP00000359652.4:n.7723+41_7723+47del
ENST00000370621.7:c.7723+41_7723+47del	ENSP00000359655.3:n.7723+41_7723+47del
ENST00000398580.3:c.1037+41_1037+47del
ENST00000486069.1:n.363+41_363+47del
ENST00000503581.5:c.7723+41_7723+47del	ENSP00000424243.1:n.7723+41_7723+47del
NM_001142800.1:c.7723+41_7723+47del	NP_001136272.1:n.7723+41_7723+47del
NM_001292009.1:c.7723+41_7723+47del	NP_001278938.1:n.7723+41_7723+47del
NM_001142800.2:c.7723+41_7723+47del MANE Select	NP_001136272.1:n.7723+41_7723+47del
NM_001292009.2:c.7723+41_7723+47del	NP_001278938.1:n.7723+41_7723+47del