Canonical Allele Identifier: CA2766485023

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658794_53658795insCC , CM000667.2:g.53658794_53658795insCC	GRCh38
NC_000005.9:g.52954624_52954625insCC , CM000667.1:g.52954624_52954625insCC	GRCh37
NC_000005.8:g.52990381_52990382insCC	NCBI36
NG_008200.1:g.103160_103161insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+170_424+171insCC MANE Select	ENSP00000296684.5:n.424+170_424+171insCC
ENST00000296684.9:c.424+170_424+171insCC	ENSP00000296684.5:n.424+170_424+171insCC
ENST00000502423.5:c.*291+170_*291+171insCC	ENSP00000422177.1:n.*291+170_*291+171insCC
ENST00000506765.1:c.338+12389_338+12390insCC	ENSP00000424570.1:n.338+12389_338+12390insCC
ENST00000506974.5:c.*200+170_*200+171insCC	ENSP00000425967.1:n.*200+170_*200+171insCC
ENST00000507026.5:c.*398+170_*398+171insCC	ENSP00000424993.1:n.*398+170_*398+171insCC
NM_002495.2:c.424+170_424+171insCC	NP_002486.1:n.424+170_424+171insCC
XM_005248525.3:c.350+12389_350+12390insCC	XP_005248582.1:n.350+12389_350+12390insCC
XM_011543415.1:c.250+170_250+171insCC	XP_011541717.1:n.250+170_250+171insCC
NM_001318051.1:c.350+12389_350+12390insCC	NP_001304980.1:n.350+12389_350+12390insCC
NM_002495.3:c.424+170_424+171insCC	NP_002486.1:n.424+170_424+171insCC
NR_134473.1:n.626+170_626+171insCC
NR_134474.1:n.543+170_543+171insCC
NR_134475.1:n.578+170_578+171insCC
NM_002495.4:c.424+170_424+171insCC MANE Select	NP_002486.1:n.424+170_424+171insCC
NM_001318051.2:c.350+12389_350+12390insCC	NP_001304980.1:n.350+12389_350+12390insCC
NR_134473.2:n.620+170_620+171insCC
NR_134474.2:n.537+170_537+171insCC
NR_134475.2:n.572+170_572+171insCC