Canonical Allele Identifier: CA2741808801
Gene: MT-ND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3479_3483del , J01415.2:m.3479_3483del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.173_177del ENSP00000354687.2:p.Lys58ThrfsTer?