Canonical Allele Identifier: CA1076121759

Gene: NDUFS4

Linked Data

• gnomAD v3: 5-53658784-C-CAAAAAAAAAAAAAAAAAAAAACAAAA
• gnomAD v4: 5-53658784-C-CAAAAAAAAAAAAAAAAAAAAACAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658804_53658805insACAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.2:g.53658804_53658805insACAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000005.9:g.52954634_52954635insACAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.1:g.52954634_52954635insACAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000005.8:g.52990391_52990392insACAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_008200.1:g.103170_103171insACAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+180_424+181insACAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000296684.5:n.424+180_424+181insACAAAAAAAAAAAAAAAAAAAAA...
ENST00000296684.9:c.424+180_424+181insACAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000296684.5:n.424+180_424+181insACAAAAAAAAAAAAAAAAAAAAA...
ENST00000502423.5:c.*291+180_*291+181insACAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000422177.1:n.*291+180_*291+181insACAAAAAAAAAAAAAAAAAAA...
ENST00000506765.1:c.338+12399_338+12400insACAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000424570.1:n.338+12399_338+12400insACAAAAAAAAAAAAAAAAA...
ENST00000506974.5:c.*200+180_*200+181insACAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000425967.1:n.*200+180_*200+181insACAAAAAAAAAAAAAAAAAAA...
ENST00000507026.5:c.*398+180_*398+181insACAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000424993.1:n.*398+180_*398+181insACAAAAAAAAAAAAAAAAAAA...
NM_002495.2:c.424+180_424+181insACAAAAAAAAAAAAAAAAAAAAAAAA	NP_002486.1:n.424+180_424+181insACAAAAAAAAAAAAAAAAAAAAAAAA
XM_005248525.3:c.350+12399_350+12400insACAAAAAAAAAAAAAAAAAAAAAAAA	XP_005248582.1:n.350+12399_350+12400insACAAAAAAAAAAAAAAAAAAAA...
XM_011543415.1:c.250+180_250+181insACAAAAAAAAAAAAAAAAAAAAAAAA	XP_011541717.1:n.250+180_250+181insACAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001318051.1:c.350+12399_350+12400insACAAAAAAAAAAAAAAAAAAAAAAAA	NP_001304980.1:n.350+12399_350+12400insACAAAAAAAAAAAAAAAAAAAA...
NM_002495.3:c.424+180_424+181insACAAAAAAAAAAAAAAAAAAAAAAAA	NP_002486.1:n.424+180_424+181insACAAAAAAAAAAAAAAAAAAAAAAAA
NR_134473.1:n.626+180_626+181insACAAAAAAAAAAAAAAAAAAAAAAAA
NR_134474.1:n.543+180_543+181insACAAAAAAAAAAAAAAAAAAAAAAAA
NR_134475.1:n.578+180_578+181insACAAAAAAAAAAAAAAAAAAAAAAAA
NM_002495.4:c.424+180_424+181insACAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_002486.1:n.424+180_424+181insACAAAAAAAAAAAAAAAAAAAAAAAA
NM_001318051.2:c.350+12399_350+12400insACAAAAAAAAAAAAAAAAAAAAAAAA	NP_001304980.1:n.350+12399_350+12400insACAAAAAAAAAAAAAAAAAAAA...
NR_134473.2:n.620+180_620+181insACAAAAAAAAAAAAAAAAAAAAAAAA
NR_134474.2:n.537+180_537+181insACAAAAAAAAAAAAAAAAAAAAAAAA
NR_134475.2:n.572+180_572+181insACAAAAAAAAAAAAAAAAAAAAAAAA