Canonical Allele Identifier: CA2573105296
Gene: MT-ND6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14248del , J01415.2:m.14248del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361681.2:c.430del ENSP00000354665.2:p.Ala144LeufsTer9