Canonical Allele Identifier: CA2673829568

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658839-CAGACTGCTCTAATTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658841_53658856del , CM000667.2:g.53658841_53658856del	GRCh38
NC_000005.9:g.52954671_52954686del , CM000667.1:g.52954671_52954686del	GRCh37
NC_000005.8:g.52990428_52990443del	NCBI36
NG_008200.1:g.103207_103222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+217_424+232del MANE Select	ENSP00000296684.5:n.424+217_424+232del
ENST00000296684.9:c.424+217_424+232del	ENSP00000296684.5:n.424+217_424+232del
ENST00000502423.5:c.*291+217_*291+232del	ENSP00000422177.1:n.*291+217_*291+232del
ENST00000506765.1:c.338+12436_338+12451del	ENSP00000424570.1:n.338+12436_338+12451del
ENST00000506974.5:c.*200+217_*200+232del	ENSP00000425967.1:n.*200+217_*200+232del
ENST00000507026.5:c.*398+217_*398+232del	ENSP00000424993.1:n.*398+217_*398+232del
NM_002495.2:c.424+217_424+232del	NP_002486.1:n.424+217_424+232del
XM_005248525.3:c.350+12436_350+12451del	XP_005248582.1:n.350+12436_350+12451del
XM_011543415.1:c.250+217_250+232del	XP_011541717.1:n.250+217_250+232del
NM_001318051.1:c.350+12436_350+12451del	NP_001304980.1:n.350+12436_350+12451del
NM_002495.3:c.424+217_424+232del	NP_002486.1:n.424+217_424+232del
NR_134473.1:n.626+217_626+232del
NR_134474.1:n.543+217_543+232del
NR_134475.1:n.578+217_578+232del
NM_002495.4:c.424+217_424+232del MANE Select	NP_002486.1:n.424+217_424+232del
NM_001318051.2:c.350+12436_350+12451del	NP_001304980.1:n.350+12436_350+12451del
NR_134473.2:n.620+217_620+232del
NR_134474.2:n.537+217_537+232del
NR_134475.2:n.572+217_572+232del