Canonical Allele Identifier: CA5945969
Gene: PDHX HGNC NCBI

Linked Data

ClinVar Variation Id: 418869
ClinVar RCV Id: RCV000479613 RCV001782961
dbSNP Id: rs776567343
ExAC: 11:34988251 G / GC
gnomAD v2: 11-34988251-G-GC
gnomAD v3: 11-34966704-G-GC
gnomAD v4: 11-34966704-G-GC
MyVariant Identifiers: chr11:g.34988256dupC (hg19) chr11:g.34988251_34988252insC (hg19) chr11:g.34966709dupC (hg38) chr11:g.34966704_34966705insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34966709dup , CM000673.2:g.34966709dup GRCh38
NC_000011.9:g.34988256dup , CM000673.1:g.34988256dup GRCh37
NC_000011.8:g.34944832dup NCBI36
NG_013368.1:g.55580dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.531dup ENSP00000389404.3:p.Thr178HisfsTer?
ENST00000227868.9:c.711dup MANE Select ENSP00000227868.4:p.Thr238HisfsTer?
ENST00000227868.8:c.711dup ENSP00000227868.4:p.Thr238HisfsTer?
ENST00000430469.6:c.343-17861dup ENSP00000415695.2:n.343-17861dup
ENST00000448838.7:c.666dup ENSP00000389404.2:p.Thr223HisfsTer?
NM_001135024.1:c.666dup NP_001128496.1:p.Thr223HisfsTer?
NM_001166158.1:c.343-17861dup NP_001159630.1:n.343-17861dup
NM_003477.2:c.711dup NP_003468.2:p.Thr238HisfsTer?
XM_011520390.1:c.531dup XP_011518692.1:p.Thr178HisfsTer?
NM_003477.3:c.711dup MANE Select NP_003468.2:p.Thr238HisfsTer?
NM_001135024.2:c.531dup NP_001128496.2:p.Thr178HisfsTer?
NM_001166158.2:c.343-17861dup NP_001159630.1:n.343-17861dup
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