Canonical Allele Identifier: CA2580613690
Community Standard Title: NM_021728.4(OTX2):c.588_591dup (p.Ala198IlefsTer?)
Gene: OTX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.56802038_56802041dup , CM000676.2:g.56802038_56802041dup GRCh38
NC_000014.8:g.57268756_57268759dup , CM000676.1:g.57268756_57268759dup GRCh37
NC_000014.7:g.56338509_56338512dup NCBI36
NG_008204.1:g.13426_13429dup
NG_008204.2:g.19653_19656dup

Transcript Alleles

HGVS Amino-acid Change
NM_021728.4:c.588_591dup MANE Select NP_068374.1:p.Ala198IlefsTer?
ENST00000672264.2:c.588_591dup MANE Select ENSP00000500115.1:p.Ala198IlefsTer?
NM_001270523.1:c.564_567dup NP_001257452.1:p.Ala190IlefsTer?
NM_001270523.2:c.564_567dup NP_001257452.1:p.Ala190IlefsTer?
NM_001270524.1:c.564_567dup NP_001257453.1:p.Ala190IlefsTer?
NM_001270524.2:c.564_567dup NP_001257453.1:p.Ala190IlefsTer?
NM_001270525.1:c.588_591dup NP_001257454.1:p.Ala198IlefsTer?
NM_001270525.2:c.588_591dup NP_001257454.1:p.Ala198IlefsTer?
NM_021728.3:c.588_591dup NP_068374.1:p.Ala198IlefsTer?
NM_172337.2:c.564_567dup NP_758840.1:p.Ala190IlefsTer?
NM_172337.3:c.564_567dup NP_758840.1:p.Ala190IlefsTer?
NR_073034.1:n.696_699dup
NR_073034.2:n.699_702dup
NR_073036.1:n.619_622dup
NR_073036.2:n.623_626dup
ENST00000339475.10:c.564_567dup ENSP00000343819.5:p.Ala190IlefsTer?
ENST00000339475.9:c.588_591dup ENSP00000343819.4:p.Ala198IlefsTer?
ENST00000408990.7:c.564_567dup ENSP00000386185.3:p.Ala190IlefsTer?
ENST00000408990.8:c.564_567dup ENSP00000386185.3:p.Ala190IlefsTer?
ENST00000554559.5:c.*304_*307dup ENSP00000450468.1:n.*304_*307dup
ENST00000554788.5:c.*304_*307dup ENSP00000474486.1:n.*304_*307dup
ENST00000554845.1:c.588_591dup ENSP00000451357.1:p.Ala198IlefsTer?
ENST00000554845.2:c.588_591dup ENSP00000451357.2:p.Ala198IlefsTer?
ENST00000555006.5:c.564_567dup ENSP00000452336.1:p.Ala190IlefsTer?
ENST00000555804.2:c.564_567dup ENSP00000451272.2:p.Ala190IlefsTer?
ENST00000672125.1:c.361-160_361-157dup ENSP00000500744.1:n.361-160_361-157dup
ENST00000673035.1:c.564_567dup ENSP00000500061.1:p.Ala190IlefsTer?
ENST00000673481.1:c.588_591dup ENSP00000500595.1:p.Ala198IlefsTer?
ENST00000685244.1:c.564_567dup ENSP00000508798.1:p.Ala190IlefsTer?