Canonical Allele Identifier: CA1891471204
Gene: OPTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13126165_13126168delinsCATT , CM000672.2:g.13126165_13126168delinsCATT GRCh38
NC_000010.10:g.13168165_13168168delinsCATT , CM000672.1:g.13168165_13168168delinsCATT GRCh37
NC_000010.9:g.13208171_13208174delinsCATT NCBI36
NG_012876.1:g.31084_31087delinsCATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378747.8:c.1242+126_1242+129delinsCATT MANE Select ENSP00000368021.3:n.1242+126_1242+129delinsCATT
ENST00000263036.9:c.1242+126_1242+129delinsCATT ENSP00000263036.3:n.1242+126_1242+129delinsCATT
ENST00000378747.7:c.1242+126_1242+129delinsCATT ENSP00000368021.3:n.1242+126_1242+129delinsCATT
ENST00000378748.7:c.1242+126_1242+129delinsCATT ENSP00000368022.3:n.1242+126_1242+129delinsCATT
ENST00000378752.7:c.1224+126_1224+129delinsCATT ENSP00000368027.3:n.1224+126_1224+129delinsCATT
ENST00000378757.6:c.1242+126_1242+129delinsCATT ENSP00000368032.2:n.1242+126_1242+129delinsCATT
ENST00000378764.6:c.1224+126_1224+129delinsCATT ENSP00000368040.1:n.1224+126_1224+129delinsCATT
NM_001008211.1:c.1242+126_1242+129delinsCATT NP_001008212.1:n.1242+126_1242+129delinsCATT
NM_001008212.1:c.1242+126_1242+129delinsCATT NP_001008213.1:n.1242+126_1242+129delinsCATT
NM_001008213.1:c.1242+126_1242+129delinsCATT NP_001008214.1:n.1242+126_1242+129delinsCATT
NM_021980.4:c.1242+126_1242+129delinsCATT NP_068815.2:n.1242+126_1242+129delinsCATT
XM_005252336.2:c.1224+126_1224+129delinsCATT XP_005252393.2:n.1224+126_1224+129delinsCATT
XM_005252337.3:c.1224+126_1224+129delinsCATT XP_005252394.2:n.1224+126_1224+129delinsCATT
XM_005252338.2:c.1071+126_1071+129delinsCATT XP_005252395.2:n.1071+126_1071+129delinsCATT
NM_001008212.2:c.1242+126_1242+129delinsCATT MANE Select NP_001008213.1:n.1242+126_1242+129delinsCATT