Canonical Allele Identifier: CA2695231645

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355450_19355451del , CM000685.2:g.19355450_19355451del	GRCh38
NC_000023.10:g.19373568_19373569del , CM000685.1:g.19373568_19373569del	GRCh37
NC_000023.9:g.19283489_19283490del	NCBI36
NG_016781.1:g.16558_16559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.726_727del	ENSP00000348062.6:p.Arg242SerfsTer6
ENST00000379805.4:c.*397_*398del	ENSP00000369133.3:n.*397_*398del
ENST00000417819.6:c.789_790del	ENSP00000404616.2:p.Arg263SerfsTer6
ENST00000423505.6:c.819_820del	ENSP00000406473.2:p.Arg273SerfsTer6
ENST00000481733.2:n.500_501del
ENST00000696704.1:c.*37_*38del	ENSP00000512823.1:n.*37_*38del
ENST00000696705.1:c.*160_*161del	ENSP00000512824.1:n.*160_*161del
ENST00000422285.7:c.705_706del MANE Select	ENSP00000394382.2:p.Arg235SerfsTer6
ENST00000379806.9:c.819_820del	ENSP00000369134.5:p.Arg273SerfsTer6
ENST00000422285.6:c.705_706del	ENSP00000394382.2:p.Arg235SerfsTer6
ENST00000481733.1:n.133_134del
ENST00000540249.5:c.612_613del	ENSP00000440761.1:p.Arg204SerfsTer6
ENST00000545074.5:c.726_727del	ENSP00000438550.1:p.Arg242SerfsTer6
NM_000284.3:c.705_706del	NP_000275.1:p.Arg235SerfsTer6
NM_001173454.1:c.819_820del	NP_001166925.1:p.Arg273SerfsTer6
NM_001173455.1:c.726_727del	NP_001166926.1:p.Arg242SerfsTer6
NM_001173456.1:c.612_613del	NP_001166927.1:p.Arg204SerfsTer6
XM_011545531.1:c.840_841del	XP_011543833.1:p.Arg280SerfsTer6
XM_011545532.1:c.747_748del	XP_011543834.1:p.Arg249SerfsTer6
XM_017029574.2:c.726_727del	XP_016885063.1:p.Arg242SerfsTer6
NM_000284.4:c.705_706del MANE Select	NP_000275.1:p.Arg235SerfsTer6
NM_001173454.2:c.819_820del	NP_001166925.1:p.Arg273SerfsTer6
NM_001173455.2:c.726_727del	NP_001166926.1:p.Arg242SerfsTer6
NM_001173456.2:c.612_613del	NP_001166927.1:p.Arg204SerfsTer6