Canonical Allele Identifier: CA2844602436
Gene: MT-ND5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12384dup , J01415.2:m.12384dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.48dup ENSP00000354813.2:p.Pro17SerfsTer9