Canonical Allele Identifier: CA2573104459
Gene: MT-ND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4226_4227del , J01415.2:m.4226_4227del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.920_921del ENSP00000354687.2:p.Ile307ThrfsTer?