Canonical Allele Identifier: CA2573104423
Gene: MT-ND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4053_4055del , J01415.2:m.4053_4055del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.747_749del ENSP00000354687.2:p.Leu250del