Canonical Allele Identifier: CA2573105000
Gene: MT-ATP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8937del , J01415.2:m.8937del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.411del ENSP00000354632.2:p.Ile138SerfsTer4