Canonical Allele Identifier: CA2573105009
Gene: MT-ATP8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8509_8510del , J01415.2:m.8509_8510del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.144_145del ENSP00000355265.1:p.Asn48LysfsTer?