Canonical Allele Identifier: CA2614645756

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67609479-C-CGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGCCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67609481_67609555dup , CM000673.2:g.67609481_67609555dup	GRCh38
NC_000011.9:g.67376952_67377026dup , CM000673.1:g.67376952_67377026dup	GRCh37
NC_000011.8:g.67133528_67133602dup	NCBI36
NG_013353.1:g.7630_7704dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.356_430dup MANE Select	ENSP00000322450.6:p.Leu143_Val144insGluGlyGluProGlyThrCysLysA...
ENST00000647561.1:c.356_430dup	ENSP00000497587.1:p.Leu143_Val144insGluGlyGluProGlyThrCysLysA...
ENST00000322776.10:c.356_430dup	ENSP00000322450.6:p.Leu143_Val144insGluGlyGluProGlyThrCysLysA...
ENST00000415352.6:c.335_409dup	ENSP00000395368.2:p.Leu136_Val137insGluGlyGluProGlyThrCysLysA...
ENST00000524838.5:n.413_487dup
ENST00000525086.5:n.429_503dup
ENST00000526169.1:n.98_172dup
ENST00000526770.5:n.215_289dup
ENST00000528314.1:c.53_127dup	ENSP00000434581.1:p.Leu42_Val43insGluGlyGluProGlyThrCysLysAsp...
ENST00000528377.1:n.527_601dup
ENST00000529867.5:c.320_394dup	ENSP00000434438.1:p.Leu131_Val132insGluGlyGluProGlyThrCysLysA...
ENST00000529927.5:c.329_403dup	ENSP00000436766.1:p.Leu134_Val135insGluGlyGluProGlyThrCysLysA...
ENST00000530014.5:n.651_725dup
ENST00000530103.5:c.*250_*324dup	ENSP00000434575.1:n.*250_*324dup
ENST00000530638.1:c.239_313dup	ENSP00000436936.1:p.Leu104_Val105insGluGlyGluProGlyThrCysLysA...
ENST00000532244.5:c.53_127dup	ENSP00000435202.1:p.Leu42_Val43insGluGlyGluProGlyThrCysLysAsp...
ENST00000532303.5:c.53_127dup	ENSP00000432015.1:p.Leu42_Val43insGluGlyGluProGlyThrCysLysAsp...
ENST00000532343.5:c.53_127dup	ENSP00000431751.1:p.Leu42_Val43insGluGlyGluProGlyThrCysLysAsp...
ENST00000533075.5:c.335_409dup	ENSP00000437267.1:p.Leu136_Val137insGluGlyGluProGlyThrCysLysA...
ENST00000534139.5:n.472_546dup
NM_001166102.1:c.329_403dup	NP_001159574.1:p.Leu134_Val135insGluGlyGluProGlyThrCysLysAspA...
NM_007103.3:c.356_430dup	NP_009034.2:p.Leu143_Val144insGluGlyGluProGlyThrCysLysAspArgG...
NM_001166102.2:c.329_403dup	NP_001159574.1:p.Leu134_Val135insGluGlyGluProGlyThrCysLysAspA...
NM_007103.4:c.356_430dup MANE Select	NP_009034.2:p.Leu143_Val144insGluGlyGluProGlyThrCysLysAspArgG...