Canonical Allele Identifier: CA2521793238

Gene: NDUFS8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033274_68033275insGTGCCGACGGACAGCGACGCACCA , CM000673.2:g.68033274_68033275insGTGCCGACGGACAGCGACGCACCA	GRCh38
NC_000011.9:g.67800741_67800742insGTGCCGACGGACAGCGACGCACCA , CM000673.1:g.67800741_67800742insGTGCCGACGGACAGCGACGCACCA	GRCh37
NC_000011.8:g.67557317_67557318insGTGCCGACGGACAGCGACGCACCA	NCBI36
NG_017040.1:g.7658_7659insGTGCCGACGGACAGCGACGCACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.363_364insGTGCCGACGGACAGCGACGCACCA MANE Select	ENSP00000315774.5:p.Cys121_Pro122insValProThrAspSerAspAlaPro
ENST00000313468.9:c.363_364insGTGCCGACGGACAGCGACGCACCA	ENSP00000315774.5:p.Cys121_Pro122insValProThrAspSerAspAlaPro
ENST00000432321.6:n.480_481insGTGCCGACGGACAGCGACGCACCA
ENST00000453471.6:c.363_364insGTGCCGACGGACAGCGACGCACCA	ENSP00000403972.2:p.Cys121_Pro122insValProThrAspSerAspAlaPro
ENST00000524810.5:c.134_135insGTGCCGACGGACAGCGACGCACCA
ENST00000525419.5:c.309_310insGTGCCGACGGACAGCGACGCACCA	ENSP00000433521.1:p.Cys103_Pro104insValProThrAspSerAspAlaPro
ENST00000526339.5:c.363_364insGTGCCGACGGACAGCGACGCACCA	ENSP00000436287.1:p.Cys121_Pro122insValProThrAspSerAspAlaPro
ENST00000526446.5:c.*418_*419insGTGCCGACGGACAGCGACGCACCA	ENSP00000433645.1:n.*418_*419insGTGCCGACGGACAGCGACGCACCA
ENST00000528492.1:c.-67+2541_-67+2542insGTGCCGACGGACAGCGACGCACCA	ENSP00000432848.1:n.-67+2541_-67+2542insGTGCCGACGGACAGCGACGCA...
ENST00000529645.1:c.541_542insGTGCCGACGGACAGCGACGCACCA	ENSP00000431293.1:n.541_542insGTGCCGACGGACAGCGACGCACCA
ENST00000532399.1:n.1068_1069insGTGCCGACGGACAGCGACGCACCA
NM_002496.3:c.363_364insGTGCCGACGGACAGCGACGCACCA	NP_002487.1:p.Cys121_Pro122insValProThrAspSerAspAlaPro
XM_005274013.1:c.363_364insGTGCCGACGGACAGCGACGCACCA	XP_005274070.1:p.Cys121_Pro122insValProThrAspSerAspAlaPro
XM_005274014.1:c.363_364insGTGCCGACGGACAGCGACGCACCA	XP_005274071.1:p.Cys121_Pro122insValProThrAspSerAspAlaPro
XM_005274015.1:c.243_244insGTGCCGACGGACAGCGACGCACCA	XP_005274072.1:p.Cys81_Pro82insValProThrAspSerAspAlaPro
XM_011545053.1:c.363_364insGTGCCGACGGACAGCGACGCACCA	XP_011543355.1:p.Cys121_Pro122insValProThrAspSerAspAlaPro
NM_002496.4:c.363_364insGTGCCGACGGACAGCGACGCACCA MANE Select	NP_002487.1:p.Cys121_Pro122insValProThrAspSerAspAlaPro