Canonical Allele Identifier: CA2573055206

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1324870
• ClinVar RCV Id: RCV001782590
• dbSNP Id: rs2147184540

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357716_19357719del , CM000685.2:g.19357716_19357719del	GRCh38
NC_000023.10:g.19375834_19375837del , CM000685.1:g.19375834_19375837del	GRCh37
NC_000023.9:g.19285755_19285758del	NCBI36
NG_016781.1:g.18824_18827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.917_920del	ENSP00000348062.6:p.Ser307ThrfsTer10
ENST00000379805.4:c.*588_*591del	ENSP00000369133.3:n.*588_*591del
ENST00000417819.6:c.980_983del	ENSP00000404616.2:p.Ser328ThrfsTer10
ENST00000423505.6:c.1010_1013del	ENSP00000406473.2:p.Ser338ThrfsTer10
ENST00000481733.2:n.691_694del
ENST00000696704.1:c.*228_*231del	ENSP00000512823.1:n.*228_*231del
ENST00000696705.1:c.*351_*354del	ENSP00000512824.1:n.*351_*354del
ENST00000422285.7:c.896_899del MANE Select	ENSP00000394382.2:p.Ser300ThrfsTer10
ENST00000379804.1:c.53_56del	ENSP00000369132.1:p.Ser19ThrfsTer10
ENST00000379806.9:c.1010_1013del	ENSP00000369134.5:p.Ser338ThrfsTer10
ENST00000422285.6:c.896_899del	ENSP00000394382.2:p.Ser300ThrfsTer10
ENST00000478795.1:n.335_338del
ENST00000481733.1:n.324_327del
ENST00000540249.5:c.803_806del	ENSP00000440761.1:p.Ser269ThrfsTer10
ENST00000545074.5:c.917_920del	ENSP00000438550.1:p.Ser307ThrfsTer10
NM_000284.3:c.896_899del	NP_000275.1:p.Ser300ThrfsTer10
NM_001173454.1:c.1010_1013del	NP_001166925.1:p.Ser338ThrfsTer10
NM_001173455.1:c.917_920del	NP_001166926.1:p.Ser307ThrfsTer10
NM_001173456.1:c.803_806del	NP_001166927.1:p.Ser269ThrfsTer10
XM_011545531.1:c.1031_1034del	XP_011543833.1:p.Ser345ThrfsTer10
XM_011545532.1:c.938_941del	XP_011543834.1:p.Ser314ThrfsTer10
XM_017029574.2:c.917_920del	XP_016885063.1:p.Ser307ThrfsTer10
NM_000284.4:c.896_899del MANE Select	NP_000275.1:p.Ser300ThrfsTer10
NM_001173454.2:c.1010_1013del	NP_001166925.1:p.Ser338ThrfsTer10
NM_001173455.2:c.917_920del	NP_001166926.1:p.Ser307ThrfsTer10
NM_001173456.2:c.803_806del	NP_001166927.1:p.Ser269ThrfsTer10