Canonical Allele Identifier: CA2418225784

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359834_19359845delinsATTATTGAGTGC , CM000685.2:g.19359834_19359845delinsATTATTGAGTGC	GRCh38
NC_000023.10:g.19377952_19377963delinsATTATTGAGTGC , CM000685.1:g.19377952_19377963delinsATTATTGAGTGC	GRCh37
NC_000023.9:g.19287873_19287884delinsATTATTGAGTGC	NCBI36
NG_016781.1:g.20942_20953delinsATTATTGAGTGC
NG_021184.1:g.160417_160428delinsGCACTCAATAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*181_*192delinsATTATTGAGTGC	ENSP00000348062.6:n.*181_*192delinsATTATTGAGTGC
ENST00000423505.6:c.*181_*192delinsATTATTGAGTGC	ENSP00000406473.2:n.*181_*192delinsATTATTGAGTGC
ENST00000481733.2:n.1149_1160delinsATTATTGAGTGC
ENST00000696704.1:c.*686_*697delinsATTATTGAGTGC	ENSP00000512823.1:n.*686_*697delinsATTATTGAGTGC
ENST00000696705.1:c.*809_*820delinsATTATTGAGTGC	ENSP00000512824.1:n.*809_*820delinsATTATTGAGTGC
ENST00000422285.7:c.*181_*192delinsATTATTGAGTGC MANE Select	ENSP00000394382.2:n.*181_*192delinsATTATTGAGTGC
ENST00000379806.9:c.*181_*192delinsATTATTGAGTGC	ENSP00000369134.5:n.*181_*192delinsATTATTGAGTGC
ENST00000422285.6:c.*181_*192delinsATTATTGAGTGC	ENSP00000394382.2:n.*181_*192delinsATTATTGAGTGC
ENST00000540249.5:c.*181_*192delinsATTATTGAGTGC	ENSP00000440761.1:n.*181_*192delinsATTATTGAGTGC
ENST00000545074.5:c.*181_*192delinsATTATTGAGTGC	ENSP00000438550.1:n.*181_*192delinsATTATTGAGTGC
NM_000284.3:c.*181_*192delinsATTATTGAGTGC	NP_000275.1:n.*181_*192delinsATTATTGAGTGC
NM_001173454.1:c.*181_*192delinsATTATTGAGTGC	NP_001166925.1:n.*181_*192delinsATTATTGAGTGC
NM_001173455.1:c.*181_*192delinsATTATTGAGTGC	NP_001166926.1:n.*181_*192delinsATTATTGAGTGC
NM_001173456.1:c.*181_*192delinsATTATTGAGTGC	NP_001166927.1:n.*181_*192delinsATTATTGAGTGC
XM_011545531.1:c.*181_*192delinsATTATTGAGTGC	XP_011543833.1:n.*181_*192delinsATTATTGAGTGC
XM_011545532.1:c.*181_*192delinsATTATTGAGTGC	XP_011543834.1:n.*181_*192delinsATTATTGAGTGC
NM_000284.4:c.*181_*192delinsATTATTGAGTGC MANE Select	NP_000275.1:n.*181_*192delinsATTATTGAGTGC
NM_001173454.2:c.*181_*192delinsATTATTGAGTGC	NP_001166925.1:n.*181_*192delinsATTATTGAGTGC
NM_001173455.2:c.*181_*192delinsATTATTGAGTGC	NP_001166926.1:n.*181_*192delinsATTATTGAGTGC
NM_001173456.2:c.*181_*192delinsATTATTGAGTGC	NP_001166927.1:n.*181_*192delinsATTATTGAGTGC