Canonical Allele Identifier: CA2819936959

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358028_19358046del , CM000685.2:g.19358028_19358046del	GRCh38
NC_000023.10:g.19376146_19376164del , CM000685.1:g.19376146_19376164del	GRCh37
NC_000023.9:g.19286067_19286085del	NCBI36
NG_016781.1:g.19136_19154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+309_920+327del	ENSP00000348062.6:n.920+309_920+327del
ENST00000379805.4:c.*591+309_*591+327del	ENSP00000369133.3:n.*591+309_*591+327del
ENST00000417819.6:c.983+309_983+327del	ENSP00000404616.2:n.983+309_983+327del
ENST00000423505.6:c.1013+309_1013+327del	ENSP00000406473.2:n.1013+309_1013+327del
ENST00000481733.2:n.694+309_694+327del
ENST00000696704.1:c.*231+309_*231+327del	ENSP00000512823.1:n.*231+309_*231+327del
ENST00000696705.1:c.*354+309_*354+327del	ENSP00000512824.1:n.*354+309_*354+327del
ENST00000422285.7:c.899+309_899+327del MANE Select	ENSP00000394382.2:n.899+309_899+327del
ENST00000379804.1:c.56+309_56+327del	ENSP00000369132.1:n.56+309_56+327del
ENST00000379806.9:c.1013+309_1013+327del	ENSP00000369134.5:n.1013+309_1013+327del
ENST00000422285.6:c.899+309_899+327del	ENSP00000394382.2:n.899+309_899+327del
ENST00000478795.1:n.338+309_338+327del
ENST00000481733.1:n.327+309_327+327del
ENST00000540249.5:c.806+309_806+327del	ENSP00000440761.1:n.806+309_806+327del
ENST00000545074.5:c.920+309_920+327del	ENSP00000438550.1:n.920+309_920+327del
NM_000284.3:c.899+309_899+327del	NP_000275.1:n.899+309_899+327del
NM_001173454.1:c.1013+309_1013+327del	NP_001166925.1:n.1013+309_1013+327del
NM_001173455.1:c.920+309_920+327del	NP_001166926.1:n.920+309_920+327del
NM_001173456.1:c.806+309_806+327del	NP_001166927.1:n.806+309_806+327del
XM_011545531.1:c.1034+309_1034+327del	XP_011543833.1:n.1034+309_1034+327del
XM_011545532.1:c.941+309_941+327del	XP_011543834.1:n.941+309_941+327del
XM_017029574.2:c.920+309_920+327del	XP_016885063.1:n.920+309_920+327del
NM_000284.4:c.899+309_899+327del MANE Select	NP_000275.1:n.899+309_899+327del
NM_001173454.2:c.1013+309_1013+327del	NP_001166925.1:n.1013+309_1013+327del
NM_001173455.2:c.920+309_920+327del	NP_001166926.1:n.920+309_920+327del
NM_001173456.2:c.806+309_806+327del	NP_001166927.1:n.806+309_806+327del