Canonical Allele Identifier: CA915950753

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 817680
• ClinVar RCV Id: RCV001008886
• dbSNP Id: rs1602227631

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355456_19355483dup , CM000685.2:g.19355456_19355483dup	GRCh38
NC_000023.10:g.19373574_19373601dup , CM000685.1:g.19373574_19373601dup	GRCh37
NC_000023.9:g.19283495_19283522dup	NCBI36
NG_016781.1:g.16564_16591dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.732_759dup	ENSP00000348062.6:p.Asp254SerfsTer4
ENST00000379805.4:c.*403_*430dup	ENSP00000369133.3:n.*403_*430dup
ENST00000417819.6:c.795_822dup	ENSP00000404616.2:p.Asp275SerfsTer4
ENST00000423505.6:c.825_852dup	ENSP00000406473.2:p.Asp285SerfsTer4
ENST00000481733.2:n.506_533dup
ENST00000696704.1:c.*43_*70dup	ENSP00000512823.1:n.*43_*70dup
ENST00000696705.1:c.*166_*193dup	ENSP00000512824.1:n.*166_*193dup
ENST00000422285.7:c.711_738dup MANE Select	ENSP00000394382.2:p.Asp247SerfsTer4
ENST00000379806.9:c.825_852dup	ENSP00000369134.5:p.Asp285SerfsTer4
ENST00000422285.6:c.711_738dup	ENSP00000394382.2:p.Asp247SerfsTer4
ENST00000481733.1:n.139_166dup
ENST00000540249.5:c.618_645dup	ENSP00000440761.1:p.Asp216SerfsTer4
ENST00000545074.5:c.732_759dup	ENSP00000438550.1:p.Asp254SerfsTer4
NM_000284.3:c.711_738dup	NP_000275.1:p.Asp247SerfsTer4
NM_001173454.1:c.825_852dup	NP_001166925.1:p.Asp285SerfsTer4
NM_001173455.1:c.732_759dup	NP_001166926.1:p.Asp254SerfsTer4
NM_001173456.1:c.618_645dup	NP_001166927.1:p.Asp216SerfsTer4
XM_011545531.1:c.846_873dup	XP_011543833.1:p.Asp292SerfsTer4
XM_011545532.1:c.753_780dup	XP_011543834.1:p.Asp261SerfsTer4
XM_017029574.2:c.732_759dup	XP_016885063.1:p.Asp254SerfsTer4
NM_000284.4:c.711_738dup MANE Select	NP_000275.1:p.Asp247SerfsTer4
NM_001173454.2:c.825_852dup	NP_001166925.1:p.Asp285SerfsTer4
NM_001173455.2:c.732_759dup	NP_001166926.1:p.Asp254SerfsTer4
NM_001173456.2:c.618_645dup	NP_001166927.1:p.Asp216SerfsTer4