Canonical Allele Identifier: CA1963422264
Gene: PDHX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34916524_34916527delinsGGGC , CM000673.2:g.34916524_34916527delinsGGGC GRCh38
NC_000011.9:g.34938071_34938074delinsGGGC , CM000673.1:g.34938071_34938074delinsGGGC GRCh37
NC_000011.8:g.34894647_34894650delinsGGGC NCBI36
NG_013368.1:g.5395_5398delinsGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.-21+38_-21+41delinsGGGC ENSP00000389404.3:n.-21+38_-21+41delinsGGGC
ENST00000448838.7:c.115+38_115+41delinsGGGC ENSP00000389404.2:n.115+38_115+41delinsGGGC
ENST00000533550.5:c.-21+586_-21+589delinsGGGC ENSP00000431281.1:n.-21+586_-21+589delinsGGGC
NM_001135024.1:c.115+38_115+41delinsGGGC NP_001128496.1:n.115+38_115+41delinsGGGC
NM_001166158.1:c.-132_-129delinsGGGC NP_001159630.1:n.-132_-129delinsGGGC
NM_003477.2:c.-132_-129delinsGGGC NP_003468.2:n.-132_-129delinsGGGC
XM_011520390.1:c.-21+586_-21+589delinsGGGC XP_011518692.1:n.-21+586_-21+589delinsGGGC
NM_001135024.2:c.-21+38_-21+41delinsGGGC NP_001128496.2:n.-21+38_-21+41delinsGGGC