Canonical Allele Identifier: CA1963422261

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916523_34916527delinsGGGGC , CM000673.2:g.34916523_34916527delinsGGGGC	GRCh38
NC_000011.9:g.34938070_34938074delinsGGGGC , CM000673.1:g.34938070_34938074delinsGGGGC	GRCh37
NC_000011.8:g.34894646_34894650delinsGGGGC	NCBI36
NG_013368.1:g.5394_5398delinsGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+37_-21+41delinsGGGGC	ENSP00000389404.3:n.-21+37_-21+41delinsGGGGC
ENST00000448838.7:c.115+37_115+41delinsGGGGC	ENSP00000389404.2:n.115+37_115+41delinsGGGGC
ENST00000533550.5:c.-21+585_-21+589delinsGGGGC	ENSP00000431281.1:n.-21+585_-21+589delinsGGGGC
NM_001135024.1:c.115+37_115+41delinsGGGGC	NP_001128496.1:n.115+37_115+41delinsGGGGC
NM_001166158.1:c.-133_-129delinsGGGGC	NP_001159630.1:n.-133_-129delinsGGGGC
NM_003477.2:c.-133_-129delinsGGGGC	NP_003468.2:n.-133_-129delinsGGGGC
XM_011520390.1:c.-21+585_-21+589delinsGGGGC	XP_011518692.1:n.-21+585_-21+589delinsGGGGC
NM_001135024.2:c.-21+37_-21+41delinsGGGGC	NP_001128496.2:n.-21+37_-21+41delinsGGGGC