Canonical Allele Identifier: CA2842278181

Gene: NDUFV1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611565del , CM000673.2:g.67611565del	GRCh38
NC_000011.9:g.67379036del , CM000673.1:g.67379036del	GRCh37
NC_000011.8:g.67135612del	NCBI36
NG_013353.1:g.9714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1076del MANE Select	ENSP00000322450.6:p.Arg359ProfsTer6
ENST00000647561.1:c.1076del	ENSP00000497587.1:p.Arg359ProfsTer6
ENST00000322776.10:c.1076del	ENSP00000322450.6:p.Arg359ProfsTer6
ENST00000415352.6:c.1055del	ENSP00000395368.2:p.Arg352ProfsTer6
ENST00000526169.1:n.699del
ENST00000526770.5:n.1359del
ENST00000527355.5:c.365del	ENSP00000432637.1:p.Arg122ProfsTer?
ENST00000527923.1:n.418del
ENST00000529927.5:c.1049del	ENSP00000436766.1:p.Arg350ProfsTer6
ENST00000531250.1:n.13del
ENST00000532303.5:c.773del	ENSP00000432015.1:p.Arg258ProfsTer6
ENST00000533919.5:c.480del	ENSP00000435199.1:n.480del
NM_001166102.1:c.1049del	NP_001159574.1:p.Arg350ProfsTer6
NM_007103.3:c.1076del	NP_009034.2:p.Arg359ProfsTer6
NM_001166102.2:c.1049del	NP_001159574.1:p.Arg350ProfsTer6
NM_007103.4:c.1076del MANE Select	NP_009034.2:p.Arg359ProfsTer6