Canonical Allele Identifier: CA2740098160
Gene: MT-ATP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8825_8828del , J01415.2:m.8825_8828del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.299_302del ENSP00000354632.2:p.Ile100ThrfsTer2