Canonical Allele Identifier: CA2573104831
Gene: MT-CO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6283_6284del , J01415.2:m.6283_6284del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.380_381del ENSP00000354499.2:p.Thr127SerfsTer?