Canonical Allele Identifier: CA996314224

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45529091_45529100del , CM000681.2:g.45529091_45529100del	GRCh38
NC_000019.9:g.46032349_46032358del , CM000681.1:g.46032349_46032358del	GRCh37
NC_000019.8:g.50724189_50724198del	NCBI36
NG_013332.1:g.60765_60774del

Transcript Alleles

HGVS	Amino-acid Change
NM_001017989.2:c.499_508del	NP_001017989.2:p.Asp167LeufsTer?
NM_001017989.3:c.499_508del	NP_001017989.2:p.Asp167LeufsTer?
ENST00000323060.3:c.499_508del	ENSP00000319817.3:p.Asp167LeufsTer?
ENST00000323060.4:c.499_508del	ENSP00000319817.3:p.Asp167LeufsTer?
XM_011527348.1:c.340_349del	XP_011525650.1:p.Asp114LeufsTer?