Canonical Allele Identifier: CA1891470798

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13125974_13125977delinsCACA , CM000672.2:g.13125974_13125977delinsCACA	GRCh38
NC_000010.10:g.13167974_13167977delinsCACA , CM000672.1:g.13167974_13167977delinsCACA	GRCh37
NC_000010.9:g.13207980_13207983delinsCACA	NCBI36
NG_012876.1:g.30893_30896delinsCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1177_1180delinsCACA MANE Select	ENSP00000368021.3:p.His393=
ENST00000263036.9:c.1177_1180delinsCACA	ENSP00000263036.3:p.His393=
ENST00000378747.7:c.1177_1180delinsCACA	ENSP00000368021.3:p.His393=
ENST00000378748.7:c.1177_1180delinsCACA	ENSP00000368022.3:p.His393=
ENST00000378752.7:c.1159_1162delinsCACA	ENSP00000368027.3:p.His387=
ENST00000378757.6:c.1177_1180delinsCACA	ENSP00000368032.2:p.His393=
ENST00000378764.6:c.1159_1162delinsCACA	ENSP00000368040.1:p.His387=
NM_001008211.1:c.1177_1180delinsCACA	NP_001008212.1:p.His393=
NM_001008212.1:c.1177_1180delinsCACA	NP_001008213.1:p.His393=
NM_001008213.1:c.1177_1180delinsCACA	NP_001008214.1:p.His393=
NM_021980.4:c.1177_1180delinsCACA	NP_068815.2:p.His393=
XM_005252336.2:c.1159_1162delinsCACA	XP_005252393.2:p.His387=
XM_005252337.3:c.1159_1162delinsCACA	XP_005252394.2:p.His387=
XM_005252338.2:c.1006_1009delinsCACA	XP_005252395.2:p.His336=
NM_001008212.2:c.1177_1180delinsCACA MANE Select	NP_001008213.1:p.His393=