Canonical Allele Identifier: CA10652088

Gene: OPA3

Linked Data

• ClinVar Variation Id: 329572
• ClinVar RCV Id: RCV000292509 ; RCV000333486 ; RCV001785573
• dbSNP Id: rs142661638
• gnomAD v2: 19-46050666-CTT-C
• gnomAD v3: 19-45547408-CTT-C
• gnomAD v4: 19-45547408-CTT-C
• MyVariant Identifiers: chr19:g.46050667_46050668del (hg19) ; chr19:g.45547409_45547410del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45547410_45547411del , CM000681.2:g.45547410_45547411del	GRCh38
NC_000019.9:g.46050668_46050669del , CM000681.1:g.46050668_46050669del	GRCh37
NC_000019.8:g.50742508_50742509del	NCBI36
NG_013332.1:g.42455_42456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323060.4:c.143-17954_143-17953del	ENSP00000319817.3:n.143-17954_143-17953del
ENST00000263275.5:c.*6104_*6105del MANE Select	ENSP00000263275.4:n.*6104_*6105del
ENST00000263275.4:c.*6104_*6105del	ENSP00000263275.3:n.*6104_*6105del
ENST00000323060.3:c.143-17954_143-17953del	ENSP00000319817.3:n.143-17954_143-17953del
NM_001017989.2:c.143-17954_143-17953del	NP_001017989.2:n.143-17954_143-17953del
NM_025136.3:c.*6104_*6105del	NP_079412.1:n.*6104_*6105del
XM_011527348.1:c.-17-17954_-17-17953del	XP_011525650.1:n.-17-17954_-17-17953del
NM_001017989.3:c.143-17954_143-17953del	NP_001017989.2:n.143-17954_143-17953del
NM_025136.4:c.*6104_*6105del MANE Select	NP_079412.1:n.*6104_*6105del