Canonical Allele Identifier: CA915952057
Gene: MT-ATP6 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8993_8994delinsCA , J01415.2:m.8993_8994delinsCA GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.467_468delinsCA ENSP00000354632.2:p.Leu156Pro