Canonical Allele Identifier: CA658778030

Gene: NDUFV1

Linked Data

• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67609481_67609483del , CM000673.2:g.67609481_67609483del	GRCh38
NC_000011.9:g.67376952_67376954del , CM000673.1:g.67376952_67376954del	GRCh37
NC_000011.8:g.67133528_67133530del	NCBI36
NG_013353.1:g.7630_7632del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322776.11:c.356_358del MANE Select	ENSP00000322450.6:p.Glu119del
ENST00000647561.1:c.356_358del	ENSP00000497587.1:p.Glu119del
ENST00000322776.10:c.356_358del	ENSP00000322450.6:p.Glu119del
ENST00000415352.6:c.335_337del	ENSP00000395368.2:p.Glu112del
ENST00000524838.5:n.413_415del
ENST00000525086.5:n.429_431del
ENST00000526169.1:n.98_100del
ENST00000526770.5:n.215_217del
ENST00000528314.1:c.53_55del	ENSP00000434581.1:p.Glu18del
ENST00000528377.1:n.527_529del
ENST00000529867.5:c.320_322del	ENSP00000434438.1:p.Glu107del
ENST00000529927.5:c.329_331del	ENSP00000436766.1:p.Glu110del
ENST00000530014.5:n.651_653del
ENST00000530103.5:c.*250_*252del	ENSP00000434575.1:n.*250_*252del
ENST00000530638.1:c.239_241del	ENSP00000436936.1:p.Glu80del
ENST00000532244.5:c.53_55del	ENSP00000435202.1:p.Glu18del
ENST00000532303.5:c.53_55del	ENSP00000432015.1:p.Glu18del
ENST00000532343.5:c.53_55del	ENSP00000431751.1:p.Glu18del
ENST00000533075.5:c.335_337del	ENSP00000437267.1:p.Glu112del
ENST00000534139.5:n.472_474del
NM_001166102.1:c.329_331del	NP_001159574.1:p.Glu110del
NM_007103.3:c.356_358del	NP_009034.2:p.Glu119del
NM_001166102.2:c.329_331del	NP_001159574.1:p.Glu110del
NM_007103.4:c.356_358del MANE Select	NP_009034.2:p.Glu119del