Canonical Allele Identifier: CA1980190052

Gene: NDUFV1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610519_67610528delinsGAGGGCAAGC , CM000673.2:g.67610519_67610528delinsGAGGGCAAGC	GRCh38
NC_000011.9:g.67377990_67377999delinsGAGGGCAAGC , CM000673.1:g.67377990_67377999delinsGAGGGCAAGC	GRCh37
NC_000011.8:g.67134566_67134575delinsGAGGGCAAGC	NCBI36
NG_013353.1:g.8668_8677delinsGAGGGCAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.649_658delinsGAGGGCAAGC MANE Select	ENSP00000322450.6:p.Glu217=
ENST00000647561.1:c.649_658delinsGAGGGCAAGC	ENSP00000497587.1:p.Glu217=
ENST00000322776.10:c.649_658delinsGAGGGCAAGC	ENSP00000322450.6:p.Glu217=
ENST00000415352.6:c.628_637delinsGAGGGCAAGC	ENSP00000395368.2:p.Glu210=
ENST00000526169.1:n.391_400delinsGAGGGCAAGC
ENST00000526770.5:n.508_517delinsGAGGGCAAGC
ENST00000529927.5:c.622_631delinsGAGGGCAAGC	ENSP00000436766.1:p.Glu208=
ENST00000532244.5:c.346_355delinsGAGGGCAAGC	ENSP00000435202.1:p.Glu116=
ENST00000532303.5:c.346_355delinsGAGGGCAAGC	ENSP00000432015.1:p.Glu116=
ENST00000533919.5:c.127_136delinsGAGGGCAAGC	ENSP00000435199.1:p.Glu43=
NM_001166102.1:c.622_631delinsGAGGGCAAGC	NP_001159574.1:p.Glu208=
NM_007103.3:c.649_658delinsGAGGGCAAGC	NP_009034.2:p.Glu217=
NM_001166102.2:c.622_631delinsGAGGGCAAGC	NP_001159574.1:p.Glu208=
NM_007103.4:c.649_658delinsGAGGGCAAGC MANE Select	NP_009034.2:p.Glu217=