Canonical Allele Identifier: CA2786690913

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13125682_13125686del , CM000672.2:g.13125682_13125686del	GRCh38
NC_000010.10:g.13167682_13167686del , CM000672.1:g.13167682_13167686del	GRCh37
NC_000010.9:g.13207688_13207692del	NCBI36
NG_012876.1:g.30601_30605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1148+115_1148+119del MANE Select	ENSP00000368021.3:n.1148+115_1148+119del
ENST00000263036.9:c.1148+115_1148+119del	ENSP00000263036.3:n.1148+115_1148+119del
ENST00000378747.7:c.1148+115_1148+119del	ENSP00000368021.3:n.1148+115_1148+119del
ENST00000378748.7:c.1148+115_1148+119del	ENSP00000368022.3:n.1148+115_1148+119del
ENST00000378752.7:c.1130+115_1130+119del	ENSP00000368027.3:n.1130+115_1130+119del
ENST00000378757.6:c.1148+115_1148+119del	ENSP00000368032.2:n.1148+115_1148+119del
ENST00000378764.6:c.1130+115_1130+119del	ENSP00000368040.1:n.1130+115_1130+119del
NM_001008211.1:c.1148+115_1148+119del	NP_001008212.1:n.1148+115_1148+119del
NM_001008212.1:c.1148+115_1148+119del	NP_001008213.1:n.1148+115_1148+119del
NM_001008213.1:c.1148+115_1148+119del	NP_001008214.1:n.1148+115_1148+119del
NM_021980.4:c.1148+115_1148+119del	NP_068815.2:n.1148+115_1148+119del
XM_005252336.2:c.1130+115_1130+119del	XP_005252393.2:n.1130+115_1130+119del
XM_005252337.3:c.1130+115_1130+119del	XP_005252394.2:n.1130+115_1130+119del
XM_005252338.2:c.977+115_977+119del	XP_005252395.2:n.977+115_977+119del
NM_001008212.2:c.1148+115_1148+119del MANE Select	NP_001008213.1:n.1148+115_1148+119del