Canonical Allele Identifier: CA5945994

Gene: PDHX

Linked Data

• dbSNP Id: rs752590767
• ExAC: 11:34988342 C / CCGGACAACCCAATGCAG
• gnomAD v2: 11-34988342-C-CCGGACAACCCAATGCAG
• gnomAD v3: 11-34966795-C-CCGGACAACCCAATGCAG
• gnomAD v4: 11-34966795-C-CCGGACAACCCAATGCAG
• MyVariant Identifiers: chr11:g.34988342_34988343insCGGACAACCCAATGCAG (hg19) ; chr11:g.34966795_34966796insCGGACAACCCAATGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966795_34966796insCGGACAACCCAATGCAG , CM000673.2:g.34966795_34966796insCGGACAACCCAATGCAG	GRCh38
NC_000011.9:g.34988342_34988343insCGGACAACCCAATGCAG , CM000673.1:g.34988342_34988343insCGGACAACCCAATGCAG	GRCh37
NC_000011.8:g.34944918_34944919insCGGACAACCCAATGCAG	NCBI36
NG_013368.1:g.55666_55667insCGGACAACCCAATGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.617_618insCGGACAACCCAATGCAG	ENSP00000389404.3:p.Gly213AspfsTer25
ENST00000227868.9:c.797_798insCGGACAACCCAATGCAG MANE Select	ENSP00000227868.4:p.Gly273AspfsTer25
ENST00000227868.8:c.797_798insCGGACAACCCAATGCAG	ENSP00000227868.4:p.Gly273AspfsTer25
ENST00000430469.6:c.343-17775_343-17774insCGGACAACCCAATGCAG	ENSP00000415695.2:n.343-17775_343-17774insCGGACAACCCAATGCAG
ENST00000448838.7:c.752_753insCGGACAACCCAATGCAG	ENSP00000389404.2:p.Gly258AspfsTer25
NM_001135024.1:c.752_753insCGGACAACCCAATGCAG	NP_001128496.1:p.Gly258AspfsTer25
NM_001166158.1:c.343-17775_343-17774insCGGACAACCCAATGCAG	NP_001159630.1:n.343-17775_343-17774insCGGACAACCCAATGCAG
NM_003477.2:c.797_798insCGGACAACCCAATGCAG	NP_003468.2:p.Gly273AspfsTer25
XM_011520390.1:c.617_618insCGGACAACCCAATGCAG	XP_011518692.1:p.Gly213AspfsTer25
NM_003477.3:c.797_798insCGGACAACCCAATGCAG MANE Select	NP_003468.2:p.Gly273AspfsTer25
NM_001135024.2:c.617_618insCGGACAACCCAATGCAG	NP_001128496.2:p.Gly213AspfsTer25
NM_001166158.2:c.343-17775_343-17774insCGGACAACCCAATGCAG	NP_001159630.1:n.343-17775_343-17774insCGGACAACCCAATGCAG