Canonical Allele Identifier: CA2740098374
Gene: MT-ND5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.13759_13760insTCCATTGGTCCACAGTACTCATCCTT , J01415.2:m.13759_13760insTCCATTGGTCCACAGTACTCATCCTT GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.1423_1424insTCCATTGGTCCACAGTACTCATCCTT ENSP00000354813.2:p.Ala475ValfsTer21