Canonical Allele Identifier: CA1891470637

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13125905_13125906delinsAT , CM000672.2:g.13125905_13125906delinsAT	GRCh38
NC_000010.10:g.13167905_13167906delinsAT , CM000672.1:g.13167905_13167906delinsAT	GRCh37
NC_000010.9:g.13207911_13207912delinsAT	NCBI36
NG_012876.1:g.30824_30825delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1149-41_1149-40delinsAT MANE Select	ENSP00000368021.3:n.1149-41_1149-40delinsAT
ENST00000263036.9:c.1149-41_1149-40delinsAT	ENSP00000263036.3:n.1149-41_1149-40delinsAT
ENST00000378747.7:c.1149-41_1149-40delinsAT	ENSP00000368021.3:n.1149-41_1149-40delinsAT
ENST00000378748.7:c.1149-41_1149-40delinsAT	ENSP00000368022.3:n.1149-41_1149-40delinsAT
ENST00000378752.7:c.1131-41_1131-40delinsAT	ENSP00000368027.3:n.1131-41_1131-40delinsAT
ENST00000378757.6:c.1149-41_1149-40delinsAT	ENSP00000368032.2:n.1149-41_1149-40delinsAT
ENST00000378764.6:c.1131-41_1131-40delinsAT	ENSP00000368040.1:n.1131-41_1131-40delinsAT
NM_001008211.1:c.1149-41_1149-40delinsAT	NP_001008212.1:n.1149-41_1149-40delinsAT
NM_001008212.1:c.1149-41_1149-40delinsAT	NP_001008213.1:n.1149-41_1149-40delinsAT
NM_001008213.1:c.1149-41_1149-40delinsAT	NP_001008214.1:n.1149-41_1149-40delinsAT
NM_021980.4:c.1149-41_1149-40delinsAT	NP_068815.2:n.1149-41_1149-40delinsAT
XM_005252336.2:c.1131-41_1131-40delinsAT	XP_005252393.2:n.1131-41_1131-40delinsAT
XM_005252337.3:c.1131-41_1131-40delinsAT	XP_005252394.2:n.1131-41_1131-40delinsAT
XM_005252338.2:c.978-41_978-40delinsAT	XP_005252395.2:n.978-41_978-40delinsAT
NM_001008212.2:c.1149-41_1149-40delinsAT MANE Select	NP_001008213.1:n.1149-41_1149-40delinsAT