Canonical Allele Identifier: CA2573332449

Gene: PDHX

Linked Data

• ClinVar Variation Id: 2412719
• ClinVar RCV Id: RCV002810036

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34960434del , CM000673.2:g.34960434del	GRCh38
NC_000011.9:g.34981981del , CM000673.1:g.34981981del	GRCh37
NC_000011.8:g.34938557del	NCBI36
NG_013368.1:g.49305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.377del	ENSP00000389404.3:p.Pro126GlnfsTer?
ENST00000227868.9:c.557del MANE Select	ENSP00000227868.4:p.Pro186GlnfsTer?
ENST00000227868.8:c.557del	ENSP00000227868.4:p.Pro186GlnfsTer?
ENST00000430469.6:c.342+12828del	ENSP00000415695.2:n.342+12828del
ENST00000448838.7:c.512del	ENSP00000389404.2:p.Pro171GlnfsTer?
ENST00000533262.1:c.476del	ENSP00000432277.1:p.Pro159GlnfsTer?
ENST00000533550.5:c.377del	ENSP00000431281.1:p.Pro126GlnfsTer?
NM_001135024.1:c.512del	NP_001128496.1:p.Pro171GlnfsTer?
NM_001166158.1:c.342+12828del	NP_001159630.1:n.342+12828del
NM_003477.2:c.557del	NP_003468.2:p.Pro186GlnfsTer?
XM_011520390.1:c.377del	XP_011518692.1:p.Pro126GlnfsTer?
NM_003477.3:c.557del MANE Select	NP_003468.2:p.Pro186GlnfsTer?
NM_001135024.2:c.377del	NP_001128496.2:p.Pro126GlnfsTer?
NM_001166158.2:c.342+12828del	NP_001159630.1:n.342+12828del