Canonical Allele Identifier: CA1963422269

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916525_34916527delinsGGC , CM000673.2:g.34916525_34916527delinsGGC	GRCh38
NC_000011.9:g.34938072_34938074delinsGGC , CM000673.1:g.34938072_34938074delinsGGC	GRCh37
NC_000011.8:g.34894648_34894650delinsGGC	NCBI36
NG_013368.1:g.5396_5398delinsGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+39_-21+41delinsGGC	ENSP00000389404.3:n.-21+39_-21+41delinsGGC
ENST00000448838.7:c.115+39_115+41delinsGGC	ENSP00000389404.2:n.115+39_115+41delinsGGC
ENST00000533550.5:c.-21+587_-21+589delinsGGC	ENSP00000431281.1:n.-21+587_-21+589delinsGGC
NM_001135024.1:c.115+39_115+41delinsGGC	NP_001128496.1:n.115+39_115+41delinsGGC
NM_001166158.1:c.-131_-129delinsGGC	NP_001159630.1:n.-131_-129delinsGGC
NM_003477.2:c.-131_-129delinsGGC	NP_003468.2:n.-131_-129delinsGGC
XM_011520390.1:c.-21+587_-21+589delinsGGC	XP_011518692.1:n.-21+587_-21+589delinsGGC
NM_001135024.2:c.-21+39_-21+41delinsGGC	NP_001128496.2:n.-21+39_-21+41delinsGGC