Canonical Allele Identifier: CA915952057
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693047
ClinVar RCV Id: RCV000854391

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