Canonical Allele Identifier: CA2573105008
Gene: MT-ATP8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8503_8504del , J01415.2:m.8503_8504del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361851.1:c.138_139del ENSP00000355265.1:p.Asn46LysfsTer2