Canonical Allele Identifier: CA2418224540

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357528_19357531delinsCAGA , CM000685.2:g.19357528_19357531delinsCAGA	GRCh38
NC_000023.10:g.19375646_19375649delinsCAGA , CM000685.1:g.19375646_19375649delinsCAGA	GRCh37
NC_000023.9:g.19285567_19285570delinsCAGA	NCBI36
NG_016781.1:g.18636_18639delinsCAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.853-124_853-121delinsCAGA	ENSP00000348062.6:n.853-124_853-121delinsCAGA
ENST00000379805.4:c.*524-124_*524-121delinsCAGA	ENSP00000369133.3:n.*524-124_*524-121delinsCAGA
ENST00000417819.6:c.916-124_916-121delinsCAGA	ENSP00000404616.2:n.916-124_916-121delinsCAGA
ENST00000423505.6:c.946-124_946-121delinsCAGA	ENSP00000406473.2:n.946-124_946-121delinsCAGA
ENST00000481733.2:n.627-124_627-121delinsCAGA
ENST00000696704.1:c.*164-124_*164-121delinsCAGA	ENSP00000512823.1:n.*164-124_*164-121delinsCAGA
ENST00000696705.1:c.*287-124_*287-121delinsCAGA	ENSP00000512824.1:n.*287-124_*287-121delinsCAGA
ENST00000422285.7:c.832-124_832-121delinsCAGA MANE Select	ENSP00000394382.2:n.832-124_832-121delinsCAGA
ENST00000379804.1:c.-12-124_-12-121delinsCAGA	ENSP00000369132.1:n.-12-124_-12-121delinsCAGA
ENST00000379806.9:c.946-124_946-121delinsCAGA	ENSP00000369134.5:n.946-124_946-121delinsCAGA
ENST00000422285.6:c.832-124_832-121delinsCAGA	ENSP00000394382.2:n.832-124_832-121delinsCAGA
ENST00000478795.1:n.147_150delinsCAGA
ENST00000481733.1:n.260-124_260-121delinsCAGA
ENST00000540249.5:c.739-124_739-121delinsCAGA	ENSP00000440761.1:n.739-124_739-121delinsCAGA
ENST00000545074.5:c.853-124_853-121delinsCAGA	ENSP00000438550.1:n.853-124_853-121delinsCAGA
NM_000284.3:c.832-124_832-121delinsCAGA	NP_000275.1:n.832-124_832-121delinsCAGA
NM_001173454.1:c.946-124_946-121delinsCAGA	NP_001166925.1:n.946-124_946-121delinsCAGA
NM_001173455.1:c.853-124_853-121delinsCAGA	NP_001166926.1:n.853-124_853-121delinsCAGA
NM_001173456.1:c.739-124_739-121delinsCAGA	NP_001166927.1:n.739-124_739-121delinsCAGA
XM_011545531.1:c.967-124_967-121delinsCAGA	XP_011543833.1:n.967-124_967-121delinsCAGA
XM_011545532.1:c.874-124_874-121delinsCAGA	XP_011543834.1:n.874-124_874-121delinsCAGA
XM_017029574.2:c.853-124_853-121delinsCAGA	XP_016885063.1:n.853-124_853-121delinsCAGA
NM_000284.4:c.832-124_832-121delinsCAGA MANE Select	NP_000275.1:n.832-124_832-121delinsCAGA
NM_001173454.2:c.946-124_946-121delinsCAGA	NP_001166925.1:n.946-124_946-121delinsCAGA
NM_001173455.2:c.853-124_853-121delinsCAGA	NP_001166926.1:n.853-124_853-121delinsCAGA
NM_001173456.2:c.739-124_739-121delinsCAGA	NP_001166927.1:n.739-124_739-121delinsCAGA