Canonical Allele Identifier: CA2695219375

Gene: OTX2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56802235_56802236del , CM000676.2:g.56802235_56802236del	GRCh38
NC_000014.8:g.57268953_57268954del , CM000676.1:g.57268953_57268954del	GRCh37
NC_000014.7:g.56338706_56338707del	NCBI36
NG_008204.1:g.13235_13236del
NG_008204.2:g.19462_19463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.397_398del	ENSP00000451357.2:p.Ser133TrpfsTer11
ENST00000555804.2:c.373_374del	ENSP00000451272.2:p.Ser125TrpfsTer11
ENST00000685244.1:c.373_374del	ENSP00000508798.1:p.Ser125TrpfsTer11
ENST00000339475.10:c.373_374del	ENSP00000343819.5:p.Ser125TrpfsTer11
ENST00000408990.8:c.373_374del	ENSP00000386185.3:p.Ser125TrpfsTer11
ENST00000672125.1:c.360+13_360+14del	ENSP00000500744.1:n.360+13_360+14del
ENST00000672264.2:c.397_398del MANE Select	ENSP00000500115.1:p.Ser133TrpfsTer11
ENST00000673035.1:c.373_374del	ENSP00000500061.1:p.Ser125TrpfsTer11
ENST00000673481.1:c.397_398del	ENSP00000500595.1:p.Ser133TrpfsTer11
ENST00000339475.9:c.397_398del	ENSP00000343819.4:p.Ser133TrpfsTer11
ENST00000408990.7:c.373_374del	ENSP00000386185.3:p.Ser125TrpfsTer11
ENST00000554559.5:c.*113_*114del	ENSP00000450468.1:n.*113_*114del
ENST00000554788.5:c.*113_*114del	ENSP00000474486.1:n.*113_*114del
ENST00000554845.1:c.397_398del	ENSP00000451357.1:p.Ser133TrpfsTer11
ENST00000555006.5:c.373_374del	ENSP00000452336.1:p.Ser125TrpfsTer11
ENST00000555804.1:c.373_374del	ENSP00000451272.1:p.Ser125TrpfsTer11
NM_001270523.1:c.373_374del	NP_001257452.1:p.Ser125TrpfsTer11
NM_001270524.1:c.373_374del	NP_001257453.1:p.Ser125TrpfsTer11
NM_001270525.1:c.397_398del	NP_001257454.1:p.Ser133TrpfsTer11
NM_021728.3:c.397_398del	NP_068374.1:p.Ser133TrpfsTer11
NM_172337.2:c.373_374del	NP_758840.1:p.Ser125TrpfsTer11
NR_073034.1:n.505_506del
NR_073036.1:n.428_429del
NM_001270523.2:c.373_374del	NP_001257452.1:p.Ser125TrpfsTer11
NM_001270524.2:c.373_374del	NP_001257453.1:p.Ser125TrpfsTer11
NM_001270525.2:c.397_398del	NP_001257454.1:p.Ser133TrpfsTer11
NM_021728.4:c.397_398del MANE Select	NP_068374.1:p.Ser133TrpfsTer11
NM_172337.3:c.373_374del	NP_758840.1:p.Ser125TrpfsTer11
NR_073034.2:n.508_509del
NR_073036.2:n.432_433del