Canonical Allele Identifier: CA2842278205

Gene: NDUFV1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611967del , CM000673.2:g.67611967del	GRCh38
NC_000011.9:g.67379438del , CM000673.1:g.67379438del	GRCh37
NC_000011.8:g.67136014del	NCBI36
NG_013353.1:g.10116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1151del MANE Select	ENSP00000322450.6:p.Pro384HisfsTer9
ENST00000647561.1:c.1151del	ENSP00000497587.1:p.Pro384HisfsTer9
ENST00000322776.10:c.1151del	ENSP00000322450.6:p.Pro384HisfsTer9
ENST00000415352.6:c.1130del	ENSP00000395368.2:p.Pro377HisfsTer9
ENST00000526169.1:n.774del
ENST00000526770.5:n.1434del
ENST00000527355.5:c.370-153del	ENSP00000432637.1:n.370-153del
ENST00000527923.1:n.493del
ENST00000529927.5:c.1124del	ENSP00000436766.1:p.Pro375HisfsTer9
ENST00000531250.1:n.415del
ENST00000532303.5:c.848del	ENSP00000432015.1:p.Pro283HisfsTer9
ENST00000533919.5:c.555del	ENSP00000435199.1:n.555del
ENST00000534352.1:n.249del
NM_001166102.1:c.1124del	NP_001159574.1:p.Pro375HisfsTer9
NM_007103.3:c.1151del	NP_009034.2:p.Pro384HisfsTer9
NM_001166102.2:c.1124del	NP_001159574.1:p.Pro375HisfsTer9
NM_007103.4:c.1151del MANE Select	NP_009034.2:p.Pro384HisfsTer9