Canonical Allele Identifier: CA2579012994
Gene: OPN1SW HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128775041_128775042del , CM000669.2:g.128775041_128775042del GRCh38
NC_000007.13:g.128415095_128415096del , CM000669.1:g.128415095_128415096del GRCh37
NC_000007.12:g.128202331_128202332del NCBI36
NG_009094.1:g.5749_5750del
NG_033110.1:g.40750_40751del

Transcript Alleles

HGVS Amino-acid change
ENST00000249389.3:c.456_457del MANE Select ENSP00000249389.3:p.Ala153TyrfsTer22
ENST00000249389.2:c.465_466del ENSP00000249389.2:p.Ala156TyrfsTer22
NM_001708.2:c.465_466del NP_001699.1:p.Ala156TyrfsTer22
NM_001385125.1:c.456_457del MANE Select NP_001372054.1:p.Ala153TyrfsTer22
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