Canonical Allele Identifier: CA645553336

Gene: OPTN

Linked Data

• COSMIC: COSM2022841

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13132110_13132112del , CM000672.2:g.13132110_13132112del	GRCh38
NC_000010.10:g.13174110_13174112del , CM000672.1:g.13174110_13174112del	GRCh37
NC_000010.9:g.13214116_13214118del	NCBI36
NG_012876.1:g.37029_37031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1445_1447del MANE Select	ENSP00000368021.3:p.Arg482_Glu483delinsLys
ENST00000263036.9:c.1445_1447del	ENSP00000263036.3:p.Arg482_Glu483delinsLys
ENST00000378747.7:c.1445_1447del	ENSP00000368021.3:p.Arg482_Glu483delinsLys
ENST00000378748.7:c.1445_1447del	ENSP00000368022.3:p.Arg482_Glu483delinsLys
ENST00000378752.7:c.1427_1429del	ENSP00000368027.3:p.Arg476_Glu477delinsLys
ENST00000378757.6:c.1445_1447del	ENSP00000368032.2:p.Arg482_Glu483delinsLys
ENST00000378764.6:c.1427_1429del	ENSP00000368040.1:p.Arg476_Glu477delinsLys
ENST00000469025.1:n.301_303del
NM_001008211.1:c.1445_1447del	NP_001008212.1:p.Arg482_Glu483delinsLys
NM_001008212.1:c.1445_1447del	NP_001008213.1:p.Arg482_Glu483delinsLys
NM_001008213.1:c.1445_1447del	NP_001008214.1:p.Arg482_Glu483delinsLys
NM_021980.4:c.1445_1447del	NP_068815.2:p.Arg482_Glu483delinsLys
XM_005252336.2:c.1427_1429del	XP_005252393.2:p.Arg476_Glu477delinsLys
XM_005252337.3:c.1427_1429del	XP_005252394.2:p.Arg476_Glu477delinsLys
XM_005252338.2:c.1274_1276del	XP_005252395.2:p.Arg425_Glu426delinsLys
NM_001008212.2:c.1445_1447del MANE Select	NP_001008213.1:p.Arg482_Glu483delinsLys