Canonical Allele Identifier: CA444330342

Gene: NDUFS4

Linked Data

• COSMIC: COSM87898
• MyVariant Identifiers: chr5:g.52942119del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646289del , CM000667.2:g.53646289del	GRCh38
NC_000005.9:g.52942119del , CM000667.1:g.52942119del	GRCh37
NC_000005.8:g.52977876del	NCBI36
NG_008200.1:g.90655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.234del MANE Select	ENSP00000296684.5:p.Ile79SerfsTer13
ENST00000296684.9:c.234del	ENSP00000296684.5:p.Ile79SerfsTer13
ENST00000502423.5:c.*101del	ENSP00000422177.1:n.*101del
ENST00000506765.1:c.222del	ENSP00000424570.1:p.Ile75SerfsTer13
ENST00000506974.5:c.*10del	ENSP00000425967.1:n.*10del
ENST00000507026.5:c.*208del	ENSP00000424993.1:n.*208del
ENST00000509443.1:n.95del
NM_002495.2:c.234del	NP_002486.1:p.Ile79SerfsTer13
XM_005248525.3:c.234del	XP_005248582.1:p.Ile79SerfsTer13
XM_011543415.1:c.60del	XP_011541717.1:p.Ile21SerfsTer13
NM_001318051.1:c.234del	NP_001304980.1:p.Ile79SerfsTer13
NM_002495.3:c.234del	NP_002486.1:p.Ile79SerfsTer13
NR_134473.1:n.436del
NR_134474.1:n.353del
NR_134475.1:n.388del
NM_002495.4:c.234del MANE Select	NP_002486.1:p.Ile79SerfsTer13
NM_001318051.2:c.234del	NP_001304980.1:p.Ile79SerfsTer13
NR_134473.2:n.430del
NR_134474.2:n.347del
NR_134475.2:n.382del