Canonical Allele Identifier: CA2740098380
Gene: MT-ND5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14079del , J01415.2:m.14079del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1743del ENSP00000354813.2:p.Gly582AlafsTer2