Canonical Allele Identifier: CA2842278179
Gene: NDUFV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611449dup , CM000673.2:g.67611449dup GRCh38
NC_000011.9:g.67378920dup , CM000673.1:g.67378920dup GRCh37
NC_000011.8:g.67135496dup NCBI36
NG_013353.1:g.9598dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.960dup MANE Select ENSP00000322450.6:p.Gly321ArgfsTer13
ENST00000647561.1:c.960dup ENSP00000497587.1:p.Gly321ArgfsTer13
ENST00000322776.10:c.960dup ENSP00000322450.6:p.Gly321ArgfsTer13
ENST00000415352.6:c.939dup ENSP00000395368.2:p.Gly314ArgfsTer13
ENST00000526169.1:n.656-73dup
ENST00000526770.5:n.1243dup
ENST00000527355.5:c.249dup ENSP00000432637.1:p.Gly84ArgfsTer13
ENST00000527923.1:n.302dup
ENST00000529927.5:c.933dup ENSP00000436766.1:p.Gly312ArgfsTer13
ENST00000532303.5:c.657dup ENSP00000432015.1:p.Gly220ArgfsTer13
ENST00000533919.5:c.392-28dup ENSP00000435199.1:n.392-28dup
NM_001166102.1:c.933dup NP_001159574.1:p.Gly312ArgfsTer13
NM_007103.3:c.960dup NP_009034.2:p.Gly321ArgfsTer13
NM_001166102.2:c.933dup NP_001159574.1:p.Gly312ArgfsTer13
NM_007103.4:c.960dup MANE Select NP_009034.2:p.Gly321ArgfsTer13