Canonical Allele Identifier: CA1546666421

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658814_53658815delinsGA , CM000667.2:g.53658814_53658815delinsGA	GRCh38
NC_000005.9:g.52954644_52954645delinsGA , CM000667.1:g.52954644_52954645delinsGA	GRCh37
NC_000005.8:g.52990401_52990402delinsGA	NCBI36
NG_008200.1:g.103180_103181delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+190_424+191delinsGA MANE Select	ENSP00000296684.5:n.424+190_424+191delinsGA
ENST00000296684.9:c.424+190_424+191delinsGA	ENSP00000296684.5:n.424+190_424+191delinsGA
ENST00000502423.5:c.*291+190_*291+191delinsGA	ENSP00000422177.1:n.*291+190_*291+191delinsGA
ENST00000506765.1:c.338+12409_338+12410delinsGA	ENSP00000424570.1:n.338+12409_338+12410delinsGA
ENST00000506974.5:c.*200+190_*200+191delinsGA	ENSP00000425967.1:n.*200+190_*200+191delinsGA
ENST00000507026.5:c.*398+190_*398+191delinsGA	ENSP00000424993.1:n.*398+190_*398+191delinsGA
NM_002495.2:c.424+190_424+191delinsGA	NP_002486.1:n.424+190_424+191delinsGA
XM_005248525.3:c.350+12409_350+12410delinsGA	XP_005248582.1:n.350+12409_350+12410delinsGA
XM_011543415.1:c.250+190_250+191delinsGA	XP_011541717.1:n.250+190_250+191delinsGA
NM_001318051.1:c.350+12409_350+12410delinsGA	NP_001304980.1:n.350+12409_350+12410delinsGA
NM_002495.3:c.424+190_424+191delinsGA	NP_002486.1:n.424+190_424+191delinsGA
NR_134473.1:n.626+190_626+191delinsGA
NR_134474.1:n.543+190_543+191delinsGA
NR_134475.1:n.578+190_578+191delinsGA
NM_002495.4:c.424+190_424+191delinsGA MANE Select	NP_002486.1:n.424+190_424+191delinsGA
NM_001318051.2:c.350+12409_350+12410delinsGA	NP_001304980.1:n.350+12409_350+12410delinsGA
NR_134473.2:n.620+190_620+191delinsGA
NR_134474.2:n.537+190_537+191delinsGA
NR_134475.2:n.572+190_572+191delinsGA