Canonical Allele Identifier: CA2786684806

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13110399_13110413del , CM000672.2:g.13110399_13110413del	GRCh38
NC_000010.10:g.13152399_13152413del , CM000672.1:g.13152399_13152413del	GRCh37
NC_000010.9:g.13192405_13192419del	NCBI36
NG_012876.1:g.15318_15332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.292_306del MANE Select	ENSP00000368021.3:p.Met98_His102del
ENST00000263036.9:c.292_306del	ENSP00000263036.3:p.Met98_His102del
ENST00000378747.7:c.292_306del	ENSP00000368021.3:p.Met98_His102del
ENST00000378748.7:c.292_306del	ENSP00000368022.3:p.Met98_His102del
ENST00000378752.7:c.292_306del	ENSP00000368027.3:p.Met98_His102del
ENST00000378757.6:c.292_306del	ENSP00000368032.2:p.Met98_His102del
ENST00000378764.6:c.292_306del	ENSP00000368040.1:p.Met98_His102del
ENST00000430081.5:c.*197_*211del	ENSP00000414747.2:n.*197_*211del
ENST00000482140.5:c.166+1111_166+1125del	ENSP00000484961.1:n.166+1111_166+1125del
NM_001008211.1:c.292_306del	NP_001008212.1:p.Met98_His102del
NM_001008212.1:c.292_306del	NP_001008213.1:p.Met98_His102del
NM_001008213.1:c.292_306del	NP_001008214.1:p.Met98_His102del
NM_021980.4:c.292_306del	NP_068815.2:p.Met98_His102del
XM_005252336.2:c.292_306del	XP_005252393.2:p.Met98_His102del
XM_005252337.3:c.292_306del	XP_005252394.2:p.Met98_His102del
XM_005252338.2:c.121_135del	XP_005252395.2:p.Met41_His45del
NM_001008212.2:c.292_306del MANE Select	NP_001008213.1:p.Met98_His102del