Canonical Allele Identifier: CA658655616

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2445773
• ClinVar RCV Id: RCV003155692 ; RCV003466026
• gnomAD v4: 5-53646275-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646276del , CM000667.2:g.53646276del	GRCh38
NC_000005.9:g.52942106del , CM000667.1:g.52942106del	GRCh37
NC_000005.8:g.52977863del	NCBI36
NG_008200.1:g.90642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.221del MANE Select	ENSP00000296684.5:p.Thr74IlefsTer18
ENST00000296684.9:c.221del	ENSP00000296684.5:p.Thr74IlefsTer18
ENST00000502423.5:c.*88del	ENSP00000422177.1:n.*88del
ENST00000506765.1:c.209del	ENSP00000424570.1:p.Thr70IlefsTer18
ENST00000506974.5:c.393del	ENSP00000425967.1:p.Ter132ArgextTer?
ENST00000507026.5:c.*195del	ENSP00000424993.1:n.*195del
ENST00000509443.1:n.82del
NM_002495.2:c.221del	NP_002486.1:p.Thr74IlefsTer18
XM_005248525.3:c.221del	XP_005248582.1:p.Thr74IlefsTer18
XM_011543415.1:c.47del	XP_011541717.1:p.Thr16IlefsTer18
NM_001318051.1:c.221del	NP_001304980.1:p.Thr74IlefsTer18
NM_002495.3:c.221del	NP_002486.1:p.Thr74IlefsTer18
NR_134473.1:n.423del
NR_134474.1:n.340del
NR_134475.1:n.375del
NM_002495.4:c.221del MANE Select	NP_002486.1:p.Thr74IlefsTer18
NM_001318051.2:c.221del	NP_001304980.1:p.Thr74IlefsTer18
NR_134473.2:n.417del
NR_134474.2:n.334del
NR_134475.2:n.369del