Canonical Allele Identifier: CA645571733

Gene: NDUFV1

Linked Data

• COSMIC: COSM5839395

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610417_67610418del , CM000673.2:g.67610417_67610418del	GRCh38
NC_000011.9:g.67377888_67377889del , CM000673.1:g.67377888_67377889del	GRCh37
NC_000011.8:g.67134464_67134465del	NCBI36
NG_013353.1:g.8566_8567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.547_548del MANE Select	ENSP00000322450.6:p.Gly183GlnfsTer9
ENST00000647561.1:c.547_548del	ENSP00000497587.1:p.Gly183GlnfsTer9
ENST00000322776.10:c.547_548del	ENSP00000322450.6:p.Gly183GlnfsTer9
ENST00000415352.6:c.526_527del	ENSP00000395368.2:p.Gly176GlnfsTer9
ENST00000526169.1:n.289_290del
ENST00000526770.5:n.406_407del
ENST00000529867.5:c.511_512del	ENSP00000434438.1:p.Gly171GlnfsTer?
ENST00000529927.5:c.520_521del	ENSP00000436766.1:p.Gly174GlnfsTer9
ENST00000530638.1:c.430_431del	ENSP00000436936.1:p.Gly144=
ENST00000532244.5:c.244_245del	ENSP00000435202.1:p.Gly82GlnfsTer9
ENST00000532303.5:c.244_245del	ENSP00000432015.1:p.Gly82GlnfsTer9
ENST00000532343.5:c.244_245del	ENSP00000431751.1:p.Gly82GlnfsTer9
ENST00000533075.5:c.526_527del	ENSP00000437267.1:p.Gly176GlnfsTer?
ENST00000533919.5:c.25_26del	ENSP00000435199.1:p.Gly9GlnfsTer9
NM_001166102.1:c.520_521del	NP_001159574.1:p.Gly174GlnfsTer9
NM_007103.3:c.547_548del	NP_009034.2:p.Gly183GlnfsTer9
NM_001166102.2:c.520_521del	NP_001159574.1:p.Gly174GlnfsTer9
NM_007103.4:c.547_548del MANE Select	NP_009034.2:p.Gly183GlnfsTer9