Canonical Allele Identifier: CA2958837632

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45529091del , CM000681.2:g.45529091del	GRCh38
NC_000019.9:g.46032349del , CM000681.1:g.46032349del	GRCh37
NC_000019.8:g.50724189del	NCBI36
NG_013332.1:g.60775del

Transcript Alleles

HGVS	Amino-acid Change
NM_001017989.2:c.509del	NP_001017989.2:p.Pro170LeufsTer?
NM_001017989.3:c.509del	NP_001017989.2:p.Pro170LeufsTer?
ENST00000323060.3:c.509del	ENSP00000319817.3:p.Pro170LeufsTer?
ENST00000323060.4:c.509del	ENSP00000319817.3:p.Pro170LeufsTer?
XM_011527348.1:c.350del	XP_011525650.1:p.Pro117LeufsTer?