Canonical Allele Identifier: CA115352
Gene: PDHX HGNC NCBI

Linked Data

ClinVar Variation Id: 2113
ClinVar RCV Id: RCV000002194
dbSNP Id: rs724159828

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34916743_34916746del , CM000673.2:g.34916743_34916746del GRCh38
NC_000011.9:g.34938290_34938293del , CM000673.1:g.34938290_34938293del GRCh37
NC_000011.8:g.34894866_34894869del NCBI36
NG_013368.1:g.5614_5617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.-21+257_-21+260del ENSP00000389404.3:n.-21+257_-21+260del
ENST00000227868.9:c.88_91del MANE Select ENSP00000227868.4:p.Lys30GlyfsTer7
ENST00000227868.8:c.88_91del ENSP00000227868.4:p.Lys30GlyfsTer7
ENST00000430469.6:c.88_91del ENSP00000415695.2:p.Lys30GlyfsTer7
ENST00000448838.7:c.115+257_115+260del ENSP00000389404.2:n.115+257_115+260del
ENST00000533262.1:c.88_91del ENSP00000432277.1:p.Lys30GlyfsTer7
ENST00000533550.5:c.-21+805_-21+808del ENSP00000431281.1:n.-21+805_-21+808del
NM_001135024.1:c.115+257_115+260del NP_001128496.1:n.115+257_115+260del
NM_001166158.1:c.88_91del NP_001159630.1:p.Lys30GlyfsTer7
NM_003477.2:c.88_91del NP_003468.2:p.Lys30GlyfsTer7
XM_011520390.1:c.-21+805_-21+808del XP_011518692.1:n.-21+805_-21+808del
NM_003477.3:c.88_91del MANE Select NP_003468.2:p.Lys30GlyfsTer7
NM_001135024.2:c.-21+257_-21+260del NP_001128496.2:n.-21+257_-21+260del
NM_001166158.2:c.88_91del NP_001159630.1:p.Lys30GlyfsTer7