Canonical Allele Identifier: CA2614647529

Gene: NDUFV1

Linked Data

• gnomAD v4: 11-67610533-C-CTGGCGCTGGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610533_67610534insTGGCGCTGGGTG , CM000673.2:g.67610533_67610534insTGGCGCTGGGTG	GRCh38
NC_000011.9:g.67378004_67378005insTGGCGCTGGGTG , CM000673.1:g.67378004_67378005insTGGCGCTGGGTG	GRCh37
NC_000011.8:g.67134580_67134581insTGGCGCTGGGTG	NCBI36
NG_013353.1:g.8682_8683insTGGCGCTGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.663_664insTGGCGCTGGGTG MANE Select	ENSP00000322450.6:p.Gly221_Lys222insTrpArgTrpVal
ENST00000647561.1:c.663_664insTGGCGCTGGGTG	ENSP00000497587.1:p.Gly221_Lys222insTrpArgTrpVal
ENST00000322776.10:c.663_664insTGGCGCTGGGTG	ENSP00000322450.6:p.Gly221_Lys222insTrpArgTrpVal
ENST00000415352.6:c.642_643insTGGCGCTGGGTG	ENSP00000395368.2:p.Gly214_Lys215insTrpArgTrpVal
ENST00000526169.1:n.405_406insTGGCGCTGGGTG
ENST00000526770.5:n.522_523insTGGCGCTGGGTG
ENST00000529927.5:c.636_637insTGGCGCTGGGTG	ENSP00000436766.1:p.Gly212_Lys213insTrpArgTrpVal
ENST00000532244.5:c.360_361insTGGCGCTGGGTG	ENSP00000435202.1:p.Gly120_Lys121insTrpArgTrpVal
ENST00000532303.5:c.360_361insTGGCGCTGGGTG	ENSP00000432015.1:p.Gly120_Lys121insTrpArgTrpVal
ENST00000533919.5:c.141_142insTGGCGCTGGGTG	ENSP00000435199.1:p.Gly47_Lys48insTrpArgTrpVal
NM_001166102.1:c.636_637insTGGCGCTGGGTG	NP_001159574.1:p.Gly212_Lys213insTrpArgTrpVal
NM_007103.3:c.663_664insTGGCGCTGGGTG	NP_009034.2:p.Gly221_Lys222insTrpArgTrpVal
NM_001166102.2:c.636_637insTGGCGCTGGGTG	NP_001159574.1:p.Gly212_Lys213insTrpArgTrpVal
NM_007103.4:c.663_664insTGGCGCTGGGTG MANE Select	NP_009034.2:p.Gly221_Lys222insTrpArgTrpVal