Canonical Allele Identifier: CA2574491356

Gene: OPTN

Linked Data

• gnomAD v4: 10-13125900-A-ATGATATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13125902_13125909dup , CM000672.2:g.13125902_13125909dup	GRCh38
NC_000010.10:g.13167902_13167909dup , CM000672.1:g.13167902_13167909dup	GRCh37
NC_000010.9:g.13207908_13207915dup	NCBI36
NG_012876.1:g.30821_30828dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1149-44_1149-37dup MANE Select	ENSP00000368021.3:n.1149-44_1149-37dup
ENST00000263036.9:c.1149-44_1149-37dup	ENSP00000263036.3:n.1149-44_1149-37dup
ENST00000378747.7:c.1149-44_1149-37dup	ENSP00000368021.3:n.1149-44_1149-37dup
ENST00000378748.7:c.1149-44_1149-37dup	ENSP00000368022.3:n.1149-44_1149-37dup
ENST00000378752.7:c.1131-44_1131-37dup	ENSP00000368027.3:n.1131-44_1131-37dup
ENST00000378757.6:c.1149-44_1149-37dup	ENSP00000368032.2:n.1149-44_1149-37dup
ENST00000378764.6:c.1131-44_1131-37dup	ENSP00000368040.1:n.1131-44_1131-37dup
NM_001008211.1:c.1149-44_1149-37dup	NP_001008212.1:n.1149-44_1149-37dup
NM_001008212.1:c.1149-44_1149-37dup	NP_001008213.1:n.1149-44_1149-37dup
NM_001008213.1:c.1149-44_1149-37dup	NP_001008214.1:n.1149-44_1149-37dup
NM_021980.4:c.1149-44_1149-37dup	NP_068815.2:n.1149-44_1149-37dup
XM_005252336.2:c.1131-44_1131-37dup	XP_005252393.2:n.1131-44_1131-37dup
XM_005252337.3:c.1131-44_1131-37dup	XP_005252394.2:n.1131-44_1131-37dup
XM_005252338.2:c.978-44_978-37dup	XP_005252395.2:n.978-44_978-37dup
NM_001008212.2:c.1149-44_1149-37dup MANE Select	NP_001008213.1:n.1149-44_1149-37dup