Canonical Allele Identifier: CA1546666445

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1752242007
• gnomAD v4: 5-53658841-G-GAGCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658842_53658843insGCAAA , CM000667.2:g.53658842_53658843insGCAAA	GRCh38
NC_000005.9:g.52954672_52954673insGCAAA , CM000667.1:g.52954672_52954673insGCAAA	GRCh37
NC_000005.8:g.52990429_52990430insGCAAA	NCBI36
NG_008200.1:g.103208_103209insGCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+218_424+219insGCAAA MANE Select	ENSP00000296684.5:n.424+218_424+219insGCAAA
ENST00000296684.9:c.424+218_424+219insGCAAA	ENSP00000296684.5:n.424+218_424+219insGCAAA
ENST00000502423.5:c.*291+218_*291+219insGCAAA	ENSP00000422177.1:n.*291+218_*291+219insGCAAA
ENST00000506765.1:c.338+12437_338+12438insGCAAA	ENSP00000424570.1:n.338+12437_338+12438insGCAAA
ENST00000506974.5:c.*200+218_*200+219insGCAAA	ENSP00000425967.1:n.*200+218_*200+219insGCAAA
ENST00000507026.5:c.*398+218_*398+219insGCAAA	ENSP00000424993.1:n.*398+218_*398+219insGCAAA
NM_002495.2:c.424+218_424+219insGCAAA	NP_002486.1:n.424+218_424+219insGCAAA
XM_005248525.3:c.350+12437_350+12438insGCAAA	XP_005248582.1:n.350+12437_350+12438insGCAAA
XM_011543415.1:c.250+218_250+219insGCAAA	XP_011541717.1:n.250+218_250+219insGCAAA
NM_001318051.1:c.350+12437_350+12438insGCAAA	NP_001304980.1:n.350+12437_350+12438insGCAAA
NM_002495.3:c.424+218_424+219insGCAAA	NP_002486.1:n.424+218_424+219insGCAAA
NR_134473.1:n.626+218_626+219insGCAAA
NR_134474.1:n.543+218_543+219insGCAAA
NR_134475.1:n.578+218_578+219insGCAAA
NM_002495.4:c.424+218_424+219insGCAAA MANE Select	NP_002486.1:n.424+218_424+219insGCAAA
NM_001318051.2:c.350+12437_350+12438insGCAAA	NP_001304980.1:n.350+12437_350+12438insGCAAA
NR_134473.2:n.620+218_620+219insGCAAA
NR_134474.2:n.537+218_537+219insGCAAA
NR_134475.2:n.572+218_572+219insGCAAA