Canonical Allele Identifier: CA120599
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9646
dbSNP Id: rs199476137
MyVariant Identifiers: chrMT:g.9205_9206del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9205_9206del , J01415.2:m.9205_9206del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.679_680del ENSP00000354632.2:p.Ter227=