Canonical Allele Identifier: CA2614649561
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611637_67611638del , CM000673.2:g.67611637_67611638del GRCh38
NC_000011.9:g.67379108_67379109del , CM000673.1:g.67379108_67379109del GRCh37
NC_000011.8:g.67135684_67135685del NCBI36
NG_013353.1:g.9786_9787del

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.1080+68_1080+69del MANE Select ENSP00000322450.6:n.1080+68_1080+69del
ENST00000647561.1:c.1080+68_1080+69del ENSP00000497587.1:n.1080+68_1080+69del
ENST00000322776.10:c.1080+68_1080+69del ENSP00000322450.6:n.1080+68_1080+69del
ENST00000415352.6:c.1059+68_1059+69del ENSP00000395368.2:n.1059+68_1059+69del
ENST00000526169.1:n.703+68_703+69del
ENST00000526770.5:n.1363+68_1363+69del
ENST00000527355.5:c.369+68_369+69del ENSP00000432637.1:n.369+68_369+69del
ENST00000527923.1:n.422+68_422+69del
ENST00000529927.5:c.1053+68_1053+69del ENSP00000436766.1:n.1053+68_1053+69del
ENST00000531250.1:n.85_86del
ENST00000532303.5:c.777+68_777+69del ENSP00000432015.1:n.777+68_777+69del
ENST00000533919.5:c.484+68_484+69del ENSP00000435199.1:n.484+68_484+69del
NM_001166102.1:c.1053+68_1053+69del NP_001159574.1:n.1053+68_1053+69del
NM_007103.3:c.1080+68_1080+69del NP_009034.2:n.1080+68_1080+69del
NM_001166102.2:c.1053+68_1053+69del NP_001159574.1:n.1053+68_1053+69del
NM_007103.4:c.1080+68_1080+69del MANE Select NP_009034.2:n.1080+68_1080+69del