Canonical Allele Identifier: CA2831038842
Gene: NDUFS8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68033131_68033413del , CM000673.2:g.68033131_68033413del GRCh38
NC_000011.9:g.67800598_67800880del , CM000673.1:g.67800598_67800880del GRCh37
NC_000011.8:g.67557174_67557456del NCBI36
NG_017040.1:g.7515_7797del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.220_372+130del
ENST00000313468.9:c.220_372+130del
ENST00000432321.6:n.337_619del
ENST00000525419.5:c.166_318+130del
ENST00000526339.5:c.220_372+130del
ENST00000526446.5:c.*275_*427+130del
ENST00000528492.1:c.-67+2398_-67+2680del ENSP00000432848.1:n.-67+2398_-67+2680del
ENST00000529645.1:c.398_550+130del
ENST00000532399.1:n.925_1207del
NM_002496.3:c.220_372+130del
XM_005274013.1:c.220_372+130del
XM_005274014.1:c.220_372+130del
XM_005274015.1:c.100_252+130del
XM_011545053.1:c.220_372+130del
NM_002496.4:c.220_372+130del