Canonical Allele Identifier: CA2418223584

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355329_19355330delinsCT , CM000685.2:g.19355329_19355330delinsCT	GRCh38
NC_000023.10:g.19373447_19373448delinsCT , CM000685.1:g.19373447_19373448delinsCT	GRCh37
NC_000023.9:g.19283368_19283369delinsCT	NCBI36
NG_016781.1:g.16437_16438delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.625-20_625-19delinsCT	ENSP00000348062.6:n.625-20_625-19delinsCT
ENST00000379805.4:c.*296-20_*296-19delinsCT	ENSP00000369133.3:n.*296-20_*296-19delinsCT
ENST00000417819.6:c.688-20_688-19delinsCT	ENSP00000404616.2:n.688-20_688-19delinsCT
ENST00000423505.6:c.718-20_718-19delinsCT	ENSP00000406473.2:n.718-20_718-19delinsCT
ENST00000481733.2:n.379_380delinsCT
ENST00000696704.1:c.419-20_419-19delinsCT	ENSP00000512823.1:n.419-20_419-19delinsCT
ENST00000696705.1:c.*59-20_*59-19delinsCT	ENSP00000512824.1:n.*59-20_*59-19delinsCT
ENST00000422285.7:c.604-20_604-19delinsCT MANE Select	ENSP00000394382.2:n.604-20_604-19delinsCT
ENST00000379806.9:c.718-20_718-19delinsCT	ENSP00000369134.5:n.718-20_718-19delinsCT
ENST00000422285.6:c.604-20_604-19delinsCT	ENSP00000394382.2:n.604-20_604-19delinsCT
ENST00000479146.1:n.439-20_439-19delinsCT
ENST00000481733.1:n.12_13delinsCT
ENST00000540249.5:c.511-20_511-19delinsCT	ENSP00000440761.1:n.511-20_511-19delinsCT
ENST00000545074.5:c.625-20_625-19delinsCT	ENSP00000438550.1:n.625-20_625-19delinsCT
NM_000284.3:c.604-20_604-19delinsCT	NP_000275.1:n.604-20_604-19delinsCT
NM_001173454.1:c.718-20_718-19delinsCT	NP_001166925.1:n.718-20_718-19delinsCT
NM_001173455.1:c.625-20_625-19delinsCT	NP_001166926.1:n.625-20_625-19delinsCT
NM_001173456.1:c.511-20_511-19delinsCT	NP_001166927.1:n.511-20_511-19delinsCT
XM_011545531.1:c.739-20_739-19delinsCT	XP_011543833.1:n.739-20_739-19delinsCT
XM_011545532.1:c.646-20_646-19delinsCT	XP_011543834.1:n.646-20_646-19delinsCT
XM_017029574.2:c.625-20_625-19delinsCT	XP_016885063.1:n.625-20_625-19delinsCT
NM_000284.4:c.604-20_604-19delinsCT MANE Select	NP_000275.1:n.604-20_604-19delinsCT
NM_001173454.2:c.718-20_718-19delinsCT	NP_001166925.1:n.718-20_718-19delinsCT
NM_001173455.2:c.625-20_625-19delinsCT	NP_001166926.1:n.625-20_625-19delinsCT
NM_001173456.2:c.511-20_511-19delinsCT	NP_001166927.1:n.511-20_511-19delinsCT