Canonical Allele Identifier: CA2673829536

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658789-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658789_53658790insG , CM000667.2:g.53658789_53658790insG	GRCh38
NC_000005.9:g.52954619_52954620insG , CM000667.1:g.52954619_52954620insG	GRCh37
NC_000005.8:g.52990376_52990377insG	NCBI36
NG_008200.1:g.103155_103156insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+165_424+166insG MANE Select	ENSP00000296684.5:n.424+165_424+166insG
ENST00000296684.9:c.424+165_424+166insG	ENSP00000296684.5:n.424+165_424+166insG
ENST00000502423.5:c.*291+165_*291+166insG	ENSP00000422177.1:n.*291+165_*291+166insG
ENST00000506765.1:c.338+12384_338+12385insG	ENSP00000424570.1:n.338+12384_338+12385insG
ENST00000506974.5:c.*200+165_*200+166insG	ENSP00000425967.1:n.*200+165_*200+166insG
ENST00000507026.5:c.*398+165_*398+166insG	ENSP00000424993.1:n.*398+165_*398+166insG
NM_002495.2:c.424+165_424+166insG	NP_002486.1:n.424+165_424+166insG
XM_005248525.3:c.350+12384_350+12385insG	XP_005248582.1:n.350+12384_350+12385insG
XM_011543415.1:c.250+165_250+166insG	XP_011541717.1:n.250+165_250+166insG
NM_001318051.1:c.350+12384_350+12385insG	NP_001304980.1:n.350+12384_350+12385insG
NM_002495.3:c.424+165_424+166insG	NP_002486.1:n.424+165_424+166insG
NR_134473.1:n.626+165_626+166insG
NR_134474.1:n.543+165_543+166insG
NR_134475.1:n.578+165_578+166insG
NM_002495.4:c.424+165_424+166insG MANE Select	NP_002486.1:n.424+165_424+166insG
NM_001318051.2:c.350+12384_350+12385insG	NP_001304980.1:n.350+12384_350+12385insG
NR_134473.2:n.620+165_620+166insG
NR_134474.2:n.537+165_537+166insG
NR_134475.2:n.572+165_572+166insG