Canonical Allele Identifier: CA2844594005
Gene: MT-ATP8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8433_8435del , J01415.2:m.8433_8435del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.68_70del ENSP00000355265.1:p.Ile23del