Canonical Allele Identifier: CA2573105014
Gene: MT-ATP8 HGNC NCBI
MT-ATP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8564dup , J01415.2:m.8564dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.199dup (MT-ATP8) ENSP00000355265.1:p.Gln67ProfsTer?
ENST00000361899.2:c.38dup (MT-ATP6) ENSP00000354632.2:p.Ile14AsnfsTer?