Canonical Allele Identifier: CA1076121922

Gene: NDUFS4

Linked Data

• gnomAD v3: 5-53658807-T-TAAAAA
• gnomAD v4: 5-53658807-T-TAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658810_53658811insAAAAA , CM000667.2:g.53658810_53658811insAAAAA	GRCh38
NC_000005.9:g.52954640_52954641insAAAAA , CM000667.1:g.52954640_52954641insAAAAA	GRCh37
NC_000005.8:g.52990397_52990398insAAAAA	NCBI36
NG_008200.1:g.103176_103177insAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+186_424+187insAAAAA MANE Select	ENSP00000296684.5:n.424+186_424+187insAAAAA
ENST00000296684.9:c.424+186_424+187insAAAAA	ENSP00000296684.5:n.424+186_424+187insAAAAA
ENST00000502423.5:c.*291+186_*291+187insAAAAA	ENSP00000422177.1:n.*291+186_*291+187insAAAAA
ENST00000506765.1:c.338+12405_338+12406insAAAAA	ENSP00000424570.1:n.338+12405_338+12406insAAAAA
ENST00000506974.5:c.*200+186_*200+187insAAAAA	ENSP00000425967.1:n.*200+186_*200+187insAAAAA
ENST00000507026.5:c.*398+186_*398+187insAAAAA	ENSP00000424993.1:n.*398+186_*398+187insAAAAA
NM_002495.2:c.424+186_424+187insAAAAA	NP_002486.1:n.424+186_424+187insAAAAA
XM_005248525.3:c.350+12405_350+12406insAAAAA	XP_005248582.1:n.350+12405_350+12406insAAAAA
XM_011543415.1:c.250+186_250+187insAAAAA	XP_011541717.1:n.250+186_250+187insAAAAA
NM_001318051.1:c.350+12405_350+12406insAAAAA	NP_001304980.1:n.350+12405_350+12406insAAAAA
NM_002495.3:c.424+186_424+187insAAAAA	NP_002486.1:n.424+186_424+187insAAAAA
NR_134473.1:n.626+186_626+187insAAAAA
NR_134474.1:n.543+186_543+187insAAAAA
NR_134475.1:n.578+186_578+187insAAAAA
NM_002495.4:c.424+186_424+187insAAAAA MANE Select	NP_002486.1:n.424+186_424+187insAAAAA
NM_001318051.2:c.350+12405_350+12406insAAAAA	NP_001304980.1:n.350+12405_350+12406insAAAAA
NR_134473.2:n.620+186_620+187insAAAAA
NR_134474.2:n.537+186_537+187insAAAAA
NR_134475.2:n.572+186_572+187insAAAAA