Canonical Allele Identifier: CA2573105274
Gene: MT-ND5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13231_13232insGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCATGGT , J01415.2:m.13231_13232insGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCATGGT GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.895_896insGTGTGCTGTGTGAAGTGTTTTCGTGTATATGACTATTTGCATGGT ENSP00000354813.2:p.Lys299SerfsTer11