Canonical Allele Identifier: CA2597181093

Gene: NDUFS4

Linked Data

• dbSNP Id: rs2112397783
• gnomAD v3: 5-53560692-GA-G
• gnomAD v4: 5-53560692-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560693del , CM000667.2:g.53560693del	GRCh38
NC_000005.9:g.52856523del , CM000667.1:g.52856523del	GRCh37
NC_000005.8:g.52892280del	NCBI36
NG_008200.1:g.5059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.31del MANE Select	ENSP00000296684.5:p.Arg11GlyfsTer12
ENST00000296684.9:c.31del	ENSP00000296684.5:p.Arg11GlyfsTer12
ENST00000502423.5:c.31del	ENSP00000422177.1:p.Arg11GlyfsTer12
ENST00000506765.1:c.19del	ENSP00000424570.1:p.Arg7GlyfsTer12
ENST00000506974.5:c.31del	ENSP00000425967.1:p.Arg11GlyfsTer12
ENST00000507026.5:c.31del	ENSP00000424993.1:p.Arg11GlyfsTer12
NM_002495.2:c.31del	NP_002486.1:p.Arg11GlyfsTer12
XM_005248525.3:c.31del	XP_005248582.1:p.Arg11GlyfsTer12
XM_011543414.1:c.31del	XP_011541716.1:p.Arg11GlyfsTer12
NM_001318051.1:c.31del	NP_001304980.1:p.Arg11GlyfsTer12
NM_002495.3:c.31del	NP_002486.1:p.Arg11GlyfsTer12
NR_134473.1:n.61del
NR_134474.1:n.61del
NR_134475.1:n.61del
XM_017009491.1:c.31del	XP_016864980.1:p.Arg11GlyfsTer12
NM_002495.4:c.31del MANE Select	NP_002486.1:p.Arg11GlyfsTer12
NM_001318051.2:c.31del	NP_001304980.1:p.Arg11GlyfsTer12
NR_134473.2:n.55del
NR_134474.2:n.55del
NR_134475.2:n.55del