Canonical Allele Identifier: CA2566341320
Gene: NDUFV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611628_67611629del , CM000673.2:g.67611628_67611629del GRCh38
NC_000011.9:g.67379099_67379100del , CM000673.1:g.67379099_67379100del GRCh37
NC_000011.8:g.67135675_67135676del NCBI36
NG_013353.1:g.9777_9778del

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.1080+59_1080+60del MANE Select ENSP00000322450.6:n.1080+59_1080+60del
ENST00000647561.1:c.1080+59_1080+60del ENSP00000497587.1:n.1080+59_1080+60del
ENST00000322776.10:c.1080+59_1080+60del ENSP00000322450.6:n.1080+59_1080+60del
ENST00000415352.6:c.1059+59_1059+60del ENSP00000395368.2:n.1059+59_1059+60del
ENST00000526169.1:n.703+59_703+60del
ENST00000526770.5:n.1363+59_1363+60del
ENST00000527355.5:c.369+59_369+60del ENSP00000432637.1:n.369+59_369+60del
ENST00000527923.1:n.422+59_422+60del
ENST00000529927.5:c.1053+59_1053+60del ENSP00000436766.1:n.1053+59_1053+60del
ENST00000531250.1:n.76_77del
ENST00000532303.5:c.777+59_777+60del ENSP00000432015.1:n.777+59_777+60del
ENST00000533919.5:c.484+59_484+60del ENSP00000435199.1:n.484+59_484+60del
NM_001166102.1:c.1053+59_1053+60del NP_001159574.1:n.1053+59_1053+60del
NM_007103.3:c.1080+59_1080+60del NP_009034.2:n.1080+59_1080+60del
NM_001166102.2:c.1053+59_1053+60del NP_001159574.1:n.1053+59_1053+60del
NM_007103.4:c.1080+59_1080+60del MANE Select NP_009034.2:n.1080+59_1080+60del