Canonical Allele Identifier: CA2740098136
Gene: MT-CO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6517_6518insGAAGGCTGAGGCAGGAGAATGGCGTGAACCCGCCAGG , J01415.2:m.6517_6518insGAAGGCTGAGGCAGGAGAATGGCGTGAACCCGCCAGG GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.614_615insGAAGGCTGAGGCAGGAGAATGGCGTGAACCCGCCAGG ENSP00000354499.2:p.Ile206LysfsTer?