Canonical Allele Identifier: CA1980190150
Gene: NDUFV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67610548_67610549delinsGC , CM000673.2:g.67610548_67610549delinsGC GRCh38
NC_000011.9:g.67378019_67378020delinsGC , CM000673.1:g.67378019_67378020delinsGC GRCh37
NC_000011.8:g.67134595_67134596delinsGC NCBI36
NG_013353.1:g.8697_8698delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.678_679delinsGC MANE Select ENSP00000322450.6:p.Lys226=
ENST00000647561.1:c.678_679delinsGC ENSP00000497587.1:p.Lys226=
ENST00000322776.10:c.678_679delinsGC ENSP00000322450.6:p.Lys226=
ENST00000415352.6:c.657_658delinsGC ENSP00000395368.2:p.Lys219=
ENST00000526169.1:n.420_421delinsGC
ENST00000526770.5:n.537_538delinsGC
ENST00000529927.5:c.651_652delinsGC ENSP00000436766.1:p.Lys217=
ENST00000532244.5:c.375_376delinsGC ENSP00000435202.1:p.Lys125=
ENST00000532303.5:c.375_376delinsGC ENSP00000432015.1:p.Lys125=
ENST00000533919.5:c.156_157delinsGC ENSP00000435199.1:p.Lys52=
NM_001166102.1:c.651_652delinsGC NP_001159574.1:p.Lys217=
NM_007103.3:c.678_679delinsGC NP_009034.2:p.Lys226=
NM_001166102.2:c.651_652delinsGC NP_001159574.1:p.Lys217=
NM_007103.4:c.678_679delinsGC MANE Select NP_009034.2:p.Lys226=