Canonical Allele Identifier: CA2573105244
Gene: MT-ND5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12867_12868insTCAGCCATAATTTACGTCTCGAGTGATGTGGGCGATTGATGAAAAGGCGGTTGAGGCGTCTGGTGAGTAGTGCATGGCTAGGAATAGTCCTGTGGTGATTTGGAGGATCAGGCA , J01415.2:m.12867_12868insTCAGCCATAATTTACGTCTCGAGTGATGTGGGCGATTGATGAAAAGGCGGTTGAGGCGTCTGGTGAGTAGTGCATGGCTAGGAATAGTCCTGTGGTGATTTGGAGGATCAGGCA GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.531_532insTCAGCCATAATTTACGTCTCGAGTGATGTGGGCGATTGATGAAAAGGCGGTTGAGGCGTCTGGTGAGTAGTGCATGGCTAGGAATAGTCCTGTGGTGATTTGGAGGATCAGGCA