Canonical Allele Identifier: CA1546666308

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658646_53658658delinsCAAAGTCAAGATA , CM000667.2:g.53658646_53658658delinsCAAAGTCAAGATA	GRCh38
NC_000005.9:g.52954476_52954488delinsCAAAGTCAAGATA , CM000667.1:g.52954476_52954488delinsCAAAGTCAAGATA	GRCh37
NC_000005.8:g.52990233_52990245delinsCAAAGTCAAGATA	NCBI36
NG_008200.1:g.103012_103024delinsCAAAGTCAAGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+22_424+34delinsCAAAGTCAAGATA MANE Select	ENSP00000296684.5:n.424+22_424+34delinsCAAAGTCAAGATA
ENST00000296684.9:c.424+22_424+34delinsCAAAGTCAAGATA	ENSP00000296684.5:n.424+22_424+34delinsCAAAGTCAAGATA
ENST00000502423.5:c.*291+22_*291+34delinsCAAAGTCAAGATA	ENSP00000422177.1:n.*291+22_*291+34delinsCAAAGTCAAGATA
ENST00000506765.1:c.338+12241_338+12253delinsCAAAGTCAAGATA	ENSP00000424570.1:n.338+12241_338+12253delinsCAAAGTCAAGATA
ENST00000506974.5:c.*200+22_*200+34delinsCAAAGTCAAGATA	ENSP00000425967.1:n.*200+22_*200+34delinsCAAAGTCAAGATA
ENST00000507026.5:c.*398+22_*398+34delinsCAAAGTCAAGATA	ENSP00000424993.1:n.*398+22_*398+34delinsCAAAGTCAAGATA
ENST00000509443.1:n.307_319delinsCAAAGTCAAGATA
NM_002495.2:c.424+22_424+34delinsCAAAGTCAAGATA	NP_002486.1:n.424+22_424+34delinsCAAAGTCAAGATA
XM_005248525.3:c.350+12241_350+12253delinsCAAAGTCAAGATA	XP_005248582.1:n.350+12241_350+12253delinsCAAAGTCAAGATA
XM_011543415.1:c.250+22_250+34delinsCAAAGTCAAGATA	XP_011541717.1:n.250+22_250+34delinsCAAAGTCAAGATA
NM_001318051.1:c.350+12241_350+12253delinsCAAAGTCAAGATA	NP_001304980.1:n.350+12241_350+12253delinsCAAAGTCAAGATA
NM_002495.3:c.424+22_424+34delinsCAAAGTCAAGATA	NP_002486.1:n.424+22_424+34delinsCAAAGTCAAGATA
NR_134473.1:n.626+22_626+34delinsCAAAGTCAAGATA
NR_134474.1:n.543+22_543+34delinsCAAAGTCAAGATA
NR_134475.1:n.578+22_578+34delinsCAAAGTCAAGATA
NM_002495.4:c.424+22_424+34delinsCAAAGTCAAGATA MANE Select	NP_002486.1:n.424+22_424+34delinsCAAAGTCAAGATA
NM_001318051.2:c.350+12241_350+12253delinsCAAAGTCAAGATA	NP_001304980.1:n.350+12241_350+12253delinsCAAAGTCAAGATA
NR_134473.2:n.620+22_620+34delinsCAAAGTCAAGATA
NR_134474.2:n.537+22_537+34delinsCAAAGTCAAGATA
NR_134475.2:n.572+22_572+34delinsCAAAGTCAAGATA