Canonical Allele Identifier: CA2724394687
Gene: NDUFV1 HGNC NCBI

Linked Data

dbSNP Id: rs2134084738

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67610603del , CM000673.2:g.67610603del GRCh38
NC_000011.9:g.67378074del , CM000673.1:g.67378074del GRCh37
NC_000011.8:g.67134650del NCBI36
NG_013353.1:g.8752del

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.700+33del MANE Select ENSP00000322450.6:n.700+33del
ENST00000647561.1:c.700+33del ENSP00000497587.1:n.700+33del
ENST00000322776.10:c.700+33del ENSP00000322450.6:n.700+33del
ENST00000415352.6:c.679+33del ENSP00000395368.2:n.679+33del
ENST00000526169.1:n.442+33del
ENST00000526770.5:n.592del
ENST00000529927.5:c.673+33del ENSP00000436766.1:n.673+33del
ENST00000532303.5:c.397+33del ENSP00000432015.1:n.397+33del
ENST00000533919.5:c.178+33del ENSP00000435199.1:n.178+33del
NM_001166102.1:c.673+33del NP_001159574.1:n.673+33del
NM_007103.3:c.700+33del NP_009034.2:n.700+33del
NM_001166102.2:c.673+33del NP_001159574.1:n.673+33del
NM_007103.4:c.700+33del MANE Select NP_009034.2:n.700+33del