Canonical Allele Identifier: CA2573105018
Gene: MT-ATP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8612_8618del , J01415.2:m.8612_8618del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.86_92del ENSP00000354632.2:p.Leu29ProfsTer12