Canonical Allele Identifier: CA2814556765

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45529091_45529092insA , CM000681.2:g.45529091_45529092insA	GRCh38
NC_000019.9:g.46032349_46032350insA , CM000681.1:g.46032349_46032350insA	GRCh37
NC_000019.8:g.50724189_50724190insA	NCBI36
NG_013332.1:g.60773_60774insT

Transcript Alleles

HGVS	Amino-acid Change
NM_001017989.2:c.507_508insT	NP_001017989.2:p.Pro170SerfsTer?
NM_001017989.3:c.507_508insT	NP_001017989.2:p.Pro170SerfsTer?
ENST00000323060.3:c.507_508insT	ENSP00000319817.3:p.Pro170SerfsTer?
ENST00000323060.4:c.507_508insT	ENSP00000319817.3:p.Pro170SerfsTer?
XM_011527348.1:c.348_349insT	XP_011525650.1:p.Pro117SerfsTer?