Canonical Allele Identifier: CA2573105287
Gene: MT-ND5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13490del , J01415.2:m.13490del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1154del ENSP00000354813.2:p.Phe385SerfsTer?