Canonical Allele Identifier: CA661778235

Gene: OPTN

Linked Data

• dbSNP Id: rs1361798612
• gnomAD v3: 10-13126223-T-TAA
• gnomAD v4: 10-13126223-T-TAA
• MyVariant Identifiers: chr10:g.13168223_13168224insAA (hg19) ; chr10:g.13126223_13126224insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13126223_13126224insAA , CM000672.2:g.13126223_13126224insAA	GRCh38
NC_000010.10:g.13168223_13168224insAA , CM000672.1:g.13168223_13168224insAA	GRCh37
NC_000010.9:g.13208229_13208230insAA	NCBI36
NG_012876.1:g.31142_31143insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1242+184_1242+185insAA MANE Select	ENSP00000368021.3:n.1242+184_1242+185insAA
ENST00000263036.9:c.1242+184_1242+185insAA	ENSP00000263036.3:n.1242+184_1242+185insAA
ENST00000378747.7:c.1242+184_1242+185insAA	ENSP00000368021.3:n.1242+184_1242+185insAA
ENST00000378748.7:c.1242+184_1242+185insAA	ENSP00000368022.3:n.1242+184_1242+185insAA
ENST00000378752.7:c.1224+184_1224+185insAA	ENSP00000368027.3:n.1224+184_1224+185insAA
ENST00000378757.6:c.1242+184_1242+185insAA	ENSP00000368032.2:n.1242+184_1242+185insAA
ENST00000378764.6:c.1224+184_1224+185insAA	ENSP00000368040.1:n.1224+184_1224+185insAA
NM_001008211.1:c.1242+184_1242+185insAA	NP_001008212.1:n.1242+184_1242+185insAA
NM_001008212.1:c.1242+184_1242+185insAA	NP_001008213.1:n.1242+184_1242+185insAA
NM_001008213.1:c.1242+184_1242+185insAA	NP_001008214.1:n.1242+184_1242+185insAA
NM_021980.4:c.1242+184_1242+185insAA	NP_068815.2:n.1242+184_1242+185insAA
XM_005252336.2:c.1224+184_1224+185insAA	XP_005252393.2:n.1224+184_1224+185insAA
XM_005252337.3:c.1224+184_1224+185insAA	XP_005252394.2:n.1224+184_1224+185insAA
XM_005252338.2:c.1071+184_1071+185insAA	XP_005252395.2:n.1071+184_1071+185insAA
NM_001008212.2:c.1242+184_1242+185insAA MANE Select	NP_001008213.1:n.1242+184_1242+185insAA