Canonical Allele Identifier: CA1891470903

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13126013_13126014delinsAC , CM000672.2:g.13126013_13126014delinsAC	GRCh38
NC_000010.10:g.13168013_13168014delinsAC , CM000672.1:g.13168013_13168014delinsAC	GRCh37
NC_000010.9:g.13208019_13208020delinsAC	NCBI36
NG_012876.1:g.30932_30933delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1216_1217delinsAC MANE Select	ENSP00000368021.3:p.Thr406=
ENST00000263036.9:c.1216_1217delinsAC	ENSP00000263036.3:p.Thr406=
ENST00000378747.7:c.1216_1217delinsAC	ENSP00000368021.3:p.Thr406=
ENST00000378748.7:c.1216_1217delinsAC	ENSP00000368022.3:p.Thr406=
ENST00000378752.7:c.1198_1199delinsAC	ENSP00000368027.3:p.Thr400=
ENST00000378757.6:c.1216_1217delinsAC	ENSP00000368032.2:p.Thr406=
ENST00000378764.6:c.1198_1199delinsAC	ENSP00000368040.1:p.Thr400=
NM_001008211.1:c.1216_1217delinsAC	NP_001008212.1:p.Thr406=
NM_001008212.1:c.1216_1217delinsAC	NP_001008213.1:p.Thr406=
NM_001008213.1:c.1216_1217delinsAC	NP_001008214.1:p.Thr406=
NM_021980.4:c.1216_1217delinsAC	NP_068815.2:p.Thr406=
XM_005252336.2:c.1198_1199delinsAC	XP_005252393.2:p.Thr400=
XM_005252337.3:c.1198_1199delinsAC	XP_005252394.2:p.Thr400=
XM_005252338.2:c.1045_1046delinsAC	XP_005252395.2:p.Thr349=
NM_001008212.2:c.1216_1217delinsAC MANE Select	NP_001008213.1:p.Thr406=