Canonical Allele Identifier: CA2418224439

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357309_19357330delinsTAGTCTCGAACTCCTGGGCGCA , CM000685.2:g.19357309_19357330delinsTAGTCTCGAACTCCTGGGCGCA	GRCh38
NC_000023.10:g.19375427_19375448delinsTAGTCTCGAACTCCTGGGCGCA , CM000685.1:g.19375427_19375448delinsTAGTCTCGAACTCCTGGGCGCA	GRCh37
NC_000023.9:g.19285348_19285369delinsTAGTCTCGAACTCCTGGGCGCA	NCBI36
NG_016781.1:g.18417_18438delinsTAGTCTCGAACTCCTGGGCGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-343_853-322delinsTAGTCTCGAACTCCTGGGCGCA	ENSP00000348062.6:n.853-343_853-322delinsTAGTCTCGAACTCCTGGGCG...
ENST00000379805.4:c.*524-343_*524-322delinsTAGTCTCGAACTCCTGGGCGCA	ENSP00000369133.3:n.*524-343_*524-322delinsTAGTCTCGAACTCCTGGG...
ENST00000417819.6:c.916-343_916-322delinsTAGTCTCGAACTCCTGGGCGCA	ENSP00000404616.2:n.916-343_916-322delinsTAGTCTCGAACTCCTGGGCG...
ENST00000423505.6:c.946-343_946-322delinsTAGTCTCGAACTCCTGGGCGCA	ENSP00000406473.2:n.946-343_946-322delinsTAGTCTCGAACTCCTGGGCG...
ENST00000481733.2:n.627-343_627-322delinsTAGTCTCGAACTCCTGGGCGCA
ENST00000696704.1:c.*164-343_*164-322delinsTAGTCTCGAACTCCTGGGCGCA	ENSP00000512823.1:n.*164-343_*164-322delinsTAGTCTCGAACTCCTGGG...
ENST00000696705.1:c.*287-343_*287-322delinsTAGTCTCGAACTCCTGGGCGCA	ENSP00000512824.1:n.*287-343_*287-322delinsTAGTCTCGAACTCCTGGG...
ENST00000422285.7:c.832-343_832-322delinsTAGTCTCGAACTCCTGGGCGCA MANE Select	ENSP00000394382.2:n.832-343_832-322delinsTAGTCTCGAACTCCTGGGCG...
ENST00000379804.1:c.-12-343_-12-322delinsTAGTCTCGAACTCCTGGGCGCA	ENSP00000369132.1:n.-12-343_-12-322delinsTAGTCTCGAACTCCTGGGCG...
ENST00000379806.9:c.946-343_946-322delinsTAGTCTCGAACTCCTGGGCGCA	ENSP00000369134.5:n.946-343_946-322delinsTAGTCTCGAACTCCTGGGCG...
ENST00000422285.6:c.832-343_832-322delinsTAGTCTCGAACTCCTGGGCGCA	ENSP00000394382.2:n.832-343_832-322delinsTAGTCTCGAACTCCTGGGCG...
ENST00000481733.1:n.260-343_260-322delinsTAGTCTCGAACTCCTGGGCGCA
ENST00000540249.5:c.739-343_739-322delinsTAGTCTCGAACTCCTGGGCGCA	ENSP00000440761.1:n.739-343_739-322delinsTAGTCTCGAACTCCTGGGCG...
ENST00000545074.5:c.853-343_853-322delinsTAGTCTCGAACTCCTGGGCGCA	ENSP00000438550.1:n.853-343_853-322delinsTAGTCTCGAACTCCTGGGCG...
NM_000284.3:c.832-343_832-322delinsTAGTCTCGAACTCCTGGGCGCA	NP_000275.1:n.832-343_832-322delinsTAGTCTCGAACTCCTGGGCGCA
NM_001173454.1:c.946-343_946-322delinsTAGTCTCGAACTCCTGGGCGCA	NP_001166925.1:n.946-343_946-322delinsTAGTCTCGAACTCCTGGGCGCA
NM_001173455.1:c.853-343_853-322delinsTAGTCTCGAACTCCTGGGCGCA	NP_001166926.1:n.853-343_853-322delinsTAGTCTCGAACTCCTGGGCGCA
NM_001173456.1:c.739-343_739-322delinsTAGTCTCGAACTCCTGGGCGCA	NP_001166927.1:n.739-343_739-322delinsTAGTCTCGAACTCCTGGGCGCA
XM_011545531.1:c.967-343_967-322delinsTAGTCTCGAACTCCTGGGCGCA	XP_011543833.1:n.967-343_967-322delinsTAGTCTCGAACTCCTGGGCGCA
XM_011545532.1:c.874-343_874-322delinsTAGTCTCGAACTCCTGGGCGCA	XP_011543834.1:n.874-343_874-322delinsTAGTCTCGAACTCCTGGGCGCA
XM_017029574.2:c.853-343_853-322delinsTAGTCTCGAACTCCTGGGCGCA	XP_016885063.1:n.853-343_853-322delinsTAGTCTCGAACTCCTGGGCGCA
NM_000284.4:c.832-343_832-322delinsTAGTCTCGAACTCCTGGGCGCA MANE Select	NP_000275.1:n.832-343_832-322delinsTAGTCTCGAACTCCTGGGCGCA
NM_001173454.2:c.946-343_946-322delinsTAGTCTCGAACTCCTGGGCGCA	NP_001166925.1:n.946-343_946-322delinsTAGTCTCGAACTCCTGGGCGCA
NM_001173455.2:c.853-343_853-322delinsTAGTCTCGAACTCCTGGGCGCA	NP_001166926.1:n.853-343_853-322delinsTAGTCTCGAACTCCTGGGCGCA
NM_001173456.2:c.739-343_739-322delinsTAGTCTCGAACTCCTGGGCGCA	NP_001166927.1:n.739-343_739-322delinsTAGTCTCGAACTCCTGGGCGCA