Canonical Allele Identifier: CA2580073315

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2189938
• ClinVar RCV Id: RCV002611937

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560674_53560675delinsCC , CM000667.2:g.53560674_53560675delinsCC	GRCh38
NC_000005.9:g.52856504_52856505delinsCC , CM000667.1:g.52856504_52856505delinsCC	GRCh37
NC_000005.8:g.52892261_52892262delinsCC	NCBI36
NG_008200.1:g.5040_5041delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.12_13delinsCC MANE Select	ENSP00000296684.5:p.Ser5Pro
ENST00000296684.9:c.12_13delinsCC	ENSP00000296684.5:p.Ser5Pro
ENST00000502423.5:c.12_13delinsCC	ENSP00000422177.1:p.Ser5Pro
ENST00000506974.5:c.12_13delinsCC	ENSP00000425967.1:p.Ser5Pro
ENST00000507026.5:c.12_13delinsCC	ENSP00000424993.1:p.Ser5Pro
NM_002495.2:c.12_13delinsCC	NP_002486.1:p.Ser5Pro
XM_005248525.3:c.12_13delinsCC	XP_005248582.1:p.Ser5Pro
XM_011543414.1:c.12_13delinsCC	XP_011541716.1:p.Ser5Pro
NM_001318051.1:c.12_13delinsCC	NP_001304980.1:p.Ser5Pro
NM_002495.3:c.12_13delinsCC	NP_002486.1:p.Ser5Pro
NR_134473.1:n.42_43delinsCC
NR_134474.1:n.42_43delinsCC
NR_134475.1:n.42_43delinsCC
XM_017009491.1:c.12_13delinsCC	XP_016864980.1:p.Ser5Pro
NM_002495.4:c.12_13delinsCC MANE Select	NP_002486.1:p.Ser5Pro
NM_001318051.2:c.12_13delinsCC	NP_001304980.1:p.Ser5Pro
NR_134473.2:n.36_37delinsCC
NR_134474.2:n.36_37delinsCC
NR_134475.2:n.36_37delinsCC