Canonical Allele Identifier: CA567703035

Gene: EYS

Linked Data

• dbSNP Id: rs1425321233
• gnomAD v2: 6-64497945-TCCCTCAACA-T
• gnomAD v4: 6-63788052-TCCCTCAACA-T
• MyVariant Identifiers: chr6:g.64497946_64497954del (hg19) ; chr6:g.63788053_63788061del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788053_63788061del , CM000668.2:g.63788053_63788061del	GRCh38
NC_000006.11:g.64497946_64497954del , CM000668.1:g.64497946_64497954del	GRCh37
NC_000006.10:g.64555905_64555913del	NCBI36
NG_023443.1:g.1924165_1924173del
NG_023443.2:g.1924165_1924173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7723+44_7723+52del MANE Select	ENSP00000424243.1:n.7723+44_7723+52del
ENST00000370616.6:c.7723+44_7723+52del	ENSP00000359650.2:n.7723+44_7723+52del
ENST00000370618.7:c.7723+44_7723+52del	ENSP00000359652.4:n.7723+44_7723+52del
ENST00000370621.7:c.7723+44_7723+52del	ENSP00000359655.3:n.7723+44_7723+52del
ENST00000398580.3:c.1037+44_1037+52del
ENST00000486069.1:n.363+44_363+52del
ENST00000503581.5:c.7723+44_7723+52del	ENSP00000424243.1:n.7723+44_7723+52del
NM_001142800.1:c.7723+44_7723+52del	NP_001136272.1:n.7723+44_7723+52del
NM_001292009.1:c.7723+44_7723+52del	NP_001278938.1:n.7723+44_7723+52del
NM_001142800.2:c.7723+44_7723+52del MANE Select	NP_001136272.1:n.7723+44_7723+52del
NM_001292009.2:c.7723+44_7723+52del	NP_001278938.1:n.7723+44_7723+52del