Allele Registry

Canonical Allele Identifier: CA120599

Gene: MT-ATP6 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.9205_9206del

Linked Data - NCBI & NCI

ClinVar Allele:

24685

ClinVar RCV:

RCV000010281

RCV002247301

RCV002260586

ClinVar Variation:

9646

dbSNP:

199476137

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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