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

Linked Data

ClinVar Variation Id: 9646
ClinVar RCV Id: RCV000010281 RCV002260586 RCV002247301
dbSNP Id: rs199476137
MyVariant Identifiers: chrMT:g.9205_9206del (hg38)
ERepo: CA120599/MONDO:0044970/014
PubMed: PMID:8739943 PMID:12915481
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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=
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