Canonical Allele Identifier: CA2840894739

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45529084_45529085del , CM000681.2:g.45529084_45529085del	GRCh38
NC_000019.9:g.46032342_46032343del , CM000681.1:g.46032342_46032343del	GRCh37
NC_000019.8:g.50724182_50724183del	NCBI36
NG_013332.1:g.60783_60784del

Transcript Alleles

HGVS	Amino-acid Change
NM_001017989.2:c.517_518del	NP_001017989.2:p.Pro173SerfsTer?
NM_001017989.3:c.517_518del	NP_001017989.2:p.Pro173SerfsTer?
ENST00000323060.3:c.517_518del	ENSP00000319817.3:p.Pro173SerfsTer?
ENST00000323060.4:c.517_518del	ENSP00000319817.3:p.Pro173SerfsTer?
XM_011527348.1:c.358_359del	XP_011525650.1:p.Pro120SerfsTer?