Canonical Allele Identifier: CA3045837304
Gene: NDUFV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611983_67611990del , CM000673.2:g.67611983_67611990del GRCh38
NC_000011.9:g.67379454_67379461del , CM000673.1:g.67379454_67379461del GRCh37
NC_000011.8:g.67136030_67136037del NCBI36
NG_013353.1:g.10132_10139del

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.1162+5_1162+12del MANE Select ENSP00000322450.6:n.1162+5_1162+12del
ENST00000647561.1:c.1162+5_1162+12del ENSP00000497587.1:n.1162+5_1162+12del
ENST00000322776.10:c.1162+5_1162+12del ENSP00000322450.6:n.1162+5_1162+12del
ENST00000415352.6:c.1141+5_1141+12del ENSP00000395368.2:n.1141+5_1141+12del
ENST00000526770.5:n.1445+5_1445+12del
ENST00000527355.5:c.370-137_370-130del ENSP00000432637.1:n.370-137_370-130del
ENST00000527923.1:n.504+5_504+12del
ENST00000529927.5:c.1135+5_1135+12del ENSP00000436766.1:n.1135+5_1135+12del
ENST00000531250.1:n.426+5_426+12del
ENST00000532303.5:c.859+5_859+12del ENSP00000432015.1:n.859+5_859+12del
ENST00000533919.5:c.566+5_566+12del ENSP00000435199.1:n.566+5_566+12del
ENST00000534352.1:n.265_272del
NM_001166102.1:c.1135+5_1135+12del NP_001159574.1:n.1135+5_1135+12del
NM_007103.3:c.1162+5_1162+12del NP_009034.2:n.1162+5_1162+12del
NM_001166102.2:c.1135+5_1135+12del NP_001159574.1:n.1135+5_1135+12del
NM_007103.4:c.1162+5_1162+12del MANE Select NP_009034.2:n.1162+5_1162+12del