Canonical Allele Identifier: CA2418224756

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358004_19358012delinsGGTAGTGTA , CM000685.2:g.19358004_19358012delinsGGTAGTGTA	GRCh38
NC_000023.10:g.19376122_19376130delinsGGTAGTGTA , CM000685.1:g.19376122_19376130delinsGGTAGTGTA	GRCh37
NC_000023.9:g.19286043_19286051delinsGGTAGTGTA	NCBI36
NG_016781.1:g.19112_19120delinsGGTAGTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+285_920+293delinsGGTAGTGTA	ENSP00000348062.6:n.920+285_920+293delinsGGTAGTGTA
ENST00000379805.4:c.*591+285_*591+293delinsGGTAGTGTA	ENSP00000369133.3:n.*591+285_*591+293delinsGGTAGTGTA
ENST00000417819.6:c.983+285_983+293delinsGGTAGTGTA	ENSP00000404616.2:n.983+285_983+293delinsGGTAGTGTA
ENST00000423505.6:c.1013+285_1013+293delinsGGTAGTGTA	ENSP00000406473.2:n.1013+285_1013+293delinsGGTAGTGTA
ENST00000481733.2:n.694+285_694+293delinsGGTAGTGTA
ENST00000696704.1:c.*231+285_*231+293delinsGGTAGTGTA	ENSP00000512823.1:n.*231+285_*231+293delinsGGTAGTGTA
ENST00000696705.1:c.*354+285_*354+293delinsGGTAGTGTA	ENSP00000512824.1:n.*354+285_*354+293delinsGGTAGTGTA
ENST00000422285.7:c.899+285_899+293delinsGGTAGTGTA MANE Select	ENSP00000394382.2:n.899+285_899+293delinsGGTAGTGTA
ENST00000379804.1:c.56+285_56+293delinsGGTAGTGTA	ENSP00000369132.1:n.56+285_56+293delinsGGTAGTGTA
ENST00000379806.9:c.1013+285_1013+293delinsGGTAGTGTA	ENSP00000369134.5:n.1013+285_1013+293delinsGGTAGTGTA
ENST00000422285.6:c.899+285_899+293delinsGGTAGTGTA	ENSP00000394382.2:n.899+285_899+293delinsGGTAGTGTA
ENST00000478795.1:n.338+285_338+293delinsGGTAGTGTA
ENST00000481733.1:n.327+285_327+293delinsGGTAGTGTA
ENST00000540249.5:c.806+285_806+293delinsGGTAGTGTA	ENSP00000440761.1:n.806+285_806+293delinsGGTAGTGTA
ENST00000545074.5:c.920+285_920+293delinsGGTAGTGTA	ENSP00000438550.1:n.920+285_920+293delinsGGTAGTGTA
NM_000284.3:c.899+285_899+293delinsGGTAGTGTA	NP_000275.1:n.899+285_899+293delinsGGTAGTGTA
NM_001173454.1:c.1013+285_1013+293delinsGGTAGTGTA	NP_001166925.1:n.1013+285_1013+293delinsGGTAGTGTA
NM_001173455.1:c.920+285_920+293delinsGGTAGTGTA	NP_001166926.1:n.920+285_920+293delinsGGTAGTGTA
NM_001173456.1:c.806+285_806+293delinsGGTAGTGTA	NP_001166927.1:n.806+285_806+293delinsGGTAGTGTA
XM_011545531.1:c.1034+285_1034+293delinsGGTAGTGTA	XP_011543833.1:n.1034+285_1034+293delinsGGTAGTGTA
XM_011545532.1:c.941+285_941+293delinsGGTAGTGTA	XP_011543834.1:n.941+285_941+293delinsGGTAGTGTA
XM_017029574.2:c.920+285_920+293delinsGGTAGTGTA	XP_016885063.1:n.920+285_920+293delinsGGTAGTGTA
NM_000284.4:c.899+285_899+293delinsGGTAGTGTA MANE Select	NP_000275.1:n.899+285_899+293delinsGGTAGTGTA
NM_001173454.2:c.1013+285_1013+293delinsGGTAGTGTA	NP_001166925.1:n.1013+285_1013+293delinsGGTAGTGTA
NM_001173455.2:c.920+285_920+293delinsGGTAGTGTA	NP_001166926.1:n.920+285_920+293delinsGGTAGTGTA
NM_001173456.2:c.806+285_806+293delinsGGTAGTGTA	NP_001166927.1:n.806+285_806+293delinsGGTAGTGTA