Canonical Allele Identifier: CA592076057

Gene: OPTN

Linked Data

• dbSNP Id: rs1436017940
• gnomAD v2: 10-13168089-G-GTC
• MyVariant Identifiers: chr10:g.13168089_13168090insTC (hg19) ; chr10:g.13126089_13126090insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13126090_13126091insCT , CM000672.2:g.13126090_13126091insCT	GRCh38
NC_000010.10:g.13168090_13168091insCT , CM000672.1:g.13168090_13168091insCT	GRCh37
NC_000010.9:g.13208096_13208097insCT	NCBI36
NG_012876.1:g.31009_31010insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1242+51_1242+52insCT MANE Select	ENSP00000368021.3:n.1242+51_1242+52insCT
ENST00000263036.9:c.1242+51_1242+52insCT	ENSP00000263036.3:n.1242+51_1242+52insCT
ENST00000378747.7:c.1242+51_1242+52insCT	ENSP00000368021.3:n.1242+51_1242+52insCT
ENST00000378748.7:c.1242+51_1242+52insCT	ENSP00000368022.3:n.1242+51_1242+52insCT
ENST00000378752.7:c.1224+51_1224+52insCT	ENSP00000368027.3:n.1224+51_1224+52insCT
ENST00000378757.6:c.1242+51_1242+52insCT	ENSP00000368032.2:n.1242+51_1242+52insCT
ENST00000378764.6:c.1224+51_1224+52insCT	ENSP00000368040.1:n.1224+51_1224+52insCT
NM_001008211.1:c.1242+51_1242+52insCT	NP_001008212.1:n.1242+51_1242+52insCT
NM_001008212.1:c.1242+51_1242+52insCT	NP_001008213.1:n.1242+51_1242+52insCT
NM_001008213.1:c.1242+51_1242+52insCT	NP_001008214.1:n.1242+51_1242+52insCT
NM_021980.4:c.1242+51_1242+52insCT	NP_068815.2:n.1242+51_1242+52insCT
XM_005252336.2:c.1224+51_1224+52insCT	XP_005252393.2:n.1224+51_1224+52insCT
XM_005252337.3:c.1224+51_1224+52insCT	XP_005252394.2:n.1224+51_1224+52insCT
XM_005252338.2:c.1071+51_1071+52insCT	XP_005252395.2:n.1071+51_1071+52insCT
NM_001008212.2:c.1242+51_1242+52insCT MANE Select	NP_001008213.1:n.1242+51_1242+52insCT