Canonical Allele Identifier: CA2842787950
Gene: OPN1MW HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154187894dup , CM000685.2:g.154187894dup GRCh38
NC_000023.10:g.153453383dup , CM000685.1:g.153453383dup GRCh37
NG_011606.1:g.10299dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000595290.6:c.237dup MANE Select ENSP00000472316.1:p.Lys80GlufsTer20
ENST00000595290.5:c.237dup ENSP00000472316.1:p.Lys80GlufsTer20
ENST00000595330.1:n.247dup
NM_000513.2:c.237dup MANE Select NP_000504.1:p.Lys80GlufsTer20