Canonical Allele Identifier: CA2418224709

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357911_19357935delinsTATAGTGTGTGTGAGCACAAGCAGC , CM000685.2:g.19357911_19357935delinsTATAGTGTGTGTGAGCACAAGCAGC	GRCh38
NC_000023.10:g.19376029_19376053delinsTATAGTGTGTGTGAGCACAAGCAGC , CM000685.1:g.19376029_19376053delinsTATAGTGTGTGTGAGCACAAGCAGC	GRCh37
NC_000023.9:g.19285950_19285974delinsTATAGTGTGTGTGAGCACAAGCAGC	NCBI36
NG_016781.1:g.19019_19043delinsTATAGTGTGTGTGAGCACAAGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+192_920+216delinsTATAGTGTGTGTGAGCACAAGCAGC	ENSP00000348062.6:n.920+192_920+216delinsTATAGTGTGTGTGAGCACAA...
ENST00000379805.4:c.*591+192_*591+216delinsTATAGTGTGTGTGAGCACAAGCAGC	ENSP00000369133.3:n.*591+192_*591+216delinsTATAGTGTGTGTGAGCAC...
ENST00000417819.6:c.983+192_983+216delinsTATAGTGTGTGTGAGCACAAGCAGC	ENSP00000404616.2:n.983+192_983+216delinsTATAGTGTGTGTGAGCACAA...
ENST00000423505.6:c.1013+192_1013+216delinsTATAGTGTGTGTGAGCACAAGCAGC	ENSP00000406473.2:n.1013+192_1013+216delinsTATAGTGTGTGTGAGCAC...
ENST00000481733.2:n.694+192_694+216delinsTATAGTGTGTGTGAGCACAAGCAGC
ENST00000696704.1:c.*231+192_*231+216delinsTATAGTGTGTGTGAGCACAAGCAGC	ENSP00000512823.1:n.*231+192_*231+216delinsTATAGTGTGTGTGAGCAC...
ENST00000696705.1:c.*354+192_*354+216delinsTATAGTGTGTGTGAGCACAAGCAGC	ENSP00000512824.1:n.*354+192_*354+216delinsTATAGTGTGTGTGAGCAC...
ENST00000422285.7:c.899+192_899+216delinsTATAGTGTGTGTGAGCACAAGCAGC MANE Select	ENSP00000394382.2:n.899+192_899+216delinsTATAGTGTGTGTGAGCACAA...
ENST00000379804.1:c.56+192_56+216delinsTATAGTGTGTGTGAGCACAAGCAGC	ENSP00000369132.1:n.56+192_56+216delinsTATAGTGTGTGTGAGCACAAGC...
ENST00000379806.9:c.1013+192_1013+216delinsTATAGTGTGTGTGAGCACAAGCAGC	ENSP00000369134.5:n.1013+192_1013+216delinsTATAGTGTGTGTGAGCAC...
ENST00000422285.6:c.899+192_899+216delinsTATAGTGTGTGTGAGCACAAGCAGC	ENSP00000394382.2:n.899+192_899+216delinsTATAGTGTGTGTGAGCACAA...
ENST00000478795.1:n.338+192_338+216delinsTATAGTGTGTGTGAGCACAAGCAGC
ENST00000481733.1:n.327+192_327+216delinsTATAGTGTGTGTGAGCACAAGCAGC
ENST00000540249.5:c.806+192_806+216delinsTATAGTGTGTGTGAGCACAAGCAGC	ENSP00000440761.1:n.806+192_806+216delinsTATAGTGTGTGTGAGCACAA...
ENST00000545074.5:c.920+192_920+216delinsTATAGTGTGTGTGAGCACAAGCAGC	ENSP00000438550.1:n.920+192_920+216delinsTATAGTGTGTGTGAGCACAA...
NM_000284.3:c.899+192_899+216delinsTATAGTGTGTGTGAGCACAAGCAGC	NP_000275.1:n.899+192_899+216delinsTATAGTGTGTGTGAGCACAAGCAGC
NM_001173454.1:c.1013+192_1013+216delinsTATAGTGTGTGTGAGCACAAGCAGC	NP_001166925.1:n.1013+192_1013+216delinsTATAGTGTGTGTGAGCACAAG...
NM_001173455.1:c.920+192_920+216delinsTATAGTGTGTGTGAGCACAAGCAGC	NP_001166926.1:n.920+192_920+216delinsTATAGTGTGTGTGAGCACAAGCA...
NM_001173456.1:c.806+192_806+216delinsTATAGTGTGTGTGAGCACAAGCAGC	NP_001166927.1:n.806+192_806+216delinsTATAGTGTGTGTGAGCACAAGCA...
XM_011545531.1:c.1034+192_1034+216delinsTATAGTGTGTGTGAGCACAAGCAGC	XP_011543833.1:n.1034+192_1034+216delinsTATAGTGTGTGTGAGCACAAG...
XM_011545532.1:c.941+192_941+216delinsTATAGTGTGTGTGAGCACAAGCAGC	XP_011543834.1:n.941+192_941+216delinsTATAGTGTGTGTGAGCACAAGCA...
XM_017029574.2:c.920+192_920+216delinsTATAGTGTGTGTGAGCACAAGCAGC	XP_016885063.1:n.920+192_920+216delinsTATAGTGTGTGTGAGCACAAGCA...
NM_000284.4:c.899+192_899+216delinsTATAGTGTGTGTGAGCACAAGCAGC MANE Select	NP_000275.1:n.899+192_899+216delinsTATAGTGTGTGTGAGCACAAGCAGC
NM_001173454.2:c.1013+192_1013+216delinsTATAGTGTGTGTGAGCACAAGCAGC	NP_001166925.1:n.1013+192_1013+216delinsTATAGTGTGTGTGAGCACAAG...
NM_001173455.2:c.920+192_920+216delinsTATAGTGTGTGTGAGCACAAGCAGC	NP_001166926.1:n.920+192_920+216delinsTATAGTGTGTGTGAGCACAAGCA...
NM_001173456.2:c.806+192_806+216delinsTATAGTGTGTGTGAGCACAAGCAGC	NP_001166927.1:n.806+192_806+216delinsTATAGTGTGTGTGAGCACAAGCA...