Canonical Allele Identifier: CA1633626765

Gene: EYS

Linked Data

• dbSNP Id: rs1766409840
• gnomAD v4: 6-64230954-CAAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.64230958_64230961del , CM000668.2:g.64230958_64230961del	GRCh38
NC_000006.11:g.64940851_64940854del , CM000668.1:g.64940851_64940854del	GRCh37
NC_000006.10:g.64998810_64998813del	NCBI36
NG_023443.1:g.1481268_1481271del
NG_023443.2:g.1481268_1481271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6192-134_6192-131del MANE Select	ENSP00000424243.1:n.6192-134_6192-131del
ENST00000370616.6:c.6192-134_6192-131del	ENSP00000359650.2:n.6192-134_6192-131del
ENST00000370618.7:c.6192-134_6192-131del	ENSP00000359652.4:n.6192-134_6192-131del
ENST00000370621.7:c.6192-134_6192-131del	ENSP00000359655.3:n.6192-134_6192-131del
ENST00000503581.5:c.6192-134_6192-131del	ENSP00000424243.1:n.6192-134_6192-131del
NM_001142800.1:c.6192-134_6192-131del	NP_001136272.1:n.6192-134_6192-131del
NM_001292009.1:c.6192-134_6192-131del	NP_001278938.1:n.6192-134_6192-131del
NM_001142800.2:c.6192-134_6192-131del MANE Select	NP_001136272.1:n.6192-134_6192-131del
NM_001292009.2:c.6192-134_6192-131del	NP_001278938.1:n.6192-134_6192-131del