Canonical Allele Identifier: CA6143232

Gene: NDUFV1

Linked Data

• dbSNP Id: rs768002859
• ExAC: 11:67377990 G / GAGGGCAAGC
• gnomAD v2: 11-67377990-G-GAGGGCAAGC
• gnomAD v4: 11-67610519-G-GAGGGCAAGC
• MyVariant Identifiers: chr11:g.67377999_67378000insAGGGCAAGC (hg19) ; chr11:g.67377990_67377991insAGGGCAAGC (hg19) ; chr11:g.67610519_67610520insAGGGCAAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610529_67610537dup , CM000673.2:g.67610529_67610537dup	GRCh38
NC_000011.9:g.67378000_67378008dup , CM000673.1:g.67378000_67378008dup	GRCh37
NC_000011.8:g.67134576_67134584dup	NCBI36
NG_013353.1:g.8678_8686dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.659_667dup MANE Select	ENSP00000322450.6:p.Lys222_Pro223insGlnGlyLys
ENST00000647561.1:c.659_667dup	ENSP00000497587.1:p.Lys222_Pro223insGlnGlyLys
ENST00000322776.10:c.659_667dup	ENSP00000322450.6:p.Lys222_Pro223insGlnGlyLys
ENST00000415352.6:c.638_646dup	ENSP00000395368.2:p.Lys215_Pro216insGlnGlyLys
ENST00000526169.1:n.401_409dup
ENST00000526770.5:n.518_526dup
ENST00000529927.5:c.632_640dup	ENSP00000436766.1:p.Lys213_Pro214insGlnGlyLys
ENST00000532244.5:c.356_364dup	ENSP00000435202.1:p.Lys121_Pro122insGlnGlyLys
ENST00000532303.5:c.356_364dup	ENSP00000432015.1:p.Lys121_Pro122insGlnGlyLys
ENST00000533919.5:c.137_145dup	ENSP00000435199.1:p.Lys48_Pro49insGlnGlyLys
NM_001166102.1:c.632_640dup	NP_001159574.1:p.Lys213_Pro214insGlnGlyLys
NM_007103.3:c.659_667dup	NP_009034.2:p.Lys222_Pro223insGlnGlyLys
NM_001166102.2:c.632_640dup	NP_001159574.1:p.Lys213_Pro214insGlnGlyLys
NM_007103.4:c.659_667dup MANE Select	NP_009034.2:p.Lys222_Pro223insGlnGlyLys