Canonical Allele Identifier: CA1089810551

Gene: EYS

Linked Data

• gnomAD v3: 6-63984559-A-AACATTTGCAGGAATATGGCCAAGGAACATTGATTCAAAATATGCCTGTAGAAAAAGT
• gnomAD v4: 6-63984559-A-AACATTTGCAGGAATATGGCCAAGGAACATTGATTCAAAATATGCCTGTAGAAAAAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63984561_63984617dup , CM000668.2:g.63984561_63984617dup	GRCh38
NC_000006.11:g.64694454_64694510dup , CM000668.1:g.64694454_64694510dup	GRCh37
NC_000006.10:g.64752413_64752469dup	NCBI36
NG_023443.1:g.1727610_1727666dup
NG_023443.2:g.1727610_1727666dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.6835-13_6878dup
ENST00000370616.6:c.6835-13_6878dup
ENST00000370618.7:c.6835-13_6878dup
ENST00000370621.7:c.6835-13_6878dup
ENST00000398580.3:c.149-13_192dup
ENST00000503581.5:c.6835-13_6878dup
NM_001142800.1:c.6835-13_6878dup
NM_001292009.1:c.6835-13_6878dup
XR_001744188.1:n.606+16277_606+16333dup
XR_001744189.1:n.129+16277_129+16333dup
XR_001744190.1:n.197+16277_197+16333dup
XR_001744191.1:n.607-1093_607-1037dup
NM_001142800.2:c.6835-13_6878dup
NM_001292009.2:c.6835-13_6878dup