Canonical Allele Identifier: CA2418222221

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351739_19351742delinsATCT , CM000685.2:g.19351739_19351742delinsATCT	GRCh38
NC_000023.10:g.19369857_19369860delinsATCT , CM000685.1:g.19369857_19369860delinsATCT	GRCh37
NC_000023.9:g.19279778_19279781delinsATCT	NCBI36
NG_016781.1:g.12847_12850delinsATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.439+332_439+335delinsATCT	ENSP00000348062.6:n.439+332_439+335delinsATCT
ENST00000379805.4:c.418+332_418+335delinsATCT	ENSP00000369133.3:n.418+332_418+335delinsATCT
ENST00000417819.6:c.502+332_502+335delinsATCT	ENSP00000404616.2:n.502+332_502+335delinsATCT
ENST00000423505.6:c.532+332_532+335delinsATCT	ENSP00000406473.2:n.532+332_532+335delinsATCT
ENST00000696704.1:c.418+332_418+335delinsATCT	ENSP00000512823.1:n.418+332_418+335delinsATCT
ENST00000696705.1:c.418+332_418+335delinsATCT	ENSP00000512824.1:n.418+332_418+335delinsATCT
ENST00000422285.7:c.418+332_418+335delinsATCT MANE Select	ENSP00000394382.2:n.418+332_418+335delinsATCT
ENST00000355808.9:c.439+332_439+335delinsATCT	ENSP00000348062.5:n.439+332_439+335delinsATCT
ENST00000379805.3:c.418+332_418+335delinsATCT	ENSP00000369133.3:n.418+332_418+335delinsATCT
ENST00000379806.9:c.532+332_532+335delinsATCT	ENSP00000369134.5:n.532+332_532+335delinsATCT
ENST00000422285.6:c.418+332_418+335delinsATCT	ENSP00000394382.2:n.418+332_418+335delinsATCT
ENST00000423505.5:c.532+332_532+335delinsATCT	ENSP00000406473.1:n.532+332_532+335delinsATCT
ENST00000540249.5:c.418+332_418+335delinsATCT	ENSP00000440761.1:n.418+332_418+335delinsATCT
ENST00000545074.5:c.439+332_439+335delinsATCT	ENSP00000438550.1:n.439+332_439+335delinsATCT
NM_000284.3:c.418+332_418+335delinsATCT	NP_000275.1:n.418+332_418+335delinsATCT
NM_001173454.1:c.532+332_532+335delinsATCT	NP_001166925.1:n.532+332_532+335delinsATCT
NM_001173455.1:c.439+332_439+335delinsATCT	NP_001166926.1:n.439+332_439+335delinsATCT
NM_001173456.1:c.418+332_418+335delinsATCT	NP_001166927.1:n.418+332_418+335delinsATCT
XM_011545531.1:c.553+332_553+335delinsATCT	XP_011543833.1:n.553+332_553+335delinsATCT
XM_011545532.1:c.553+332_553+335delinsATCT	XP_011543834.1:n.553+332_553+335delinsATCT
XM_017029574.2:c.532+332_532+335delinsATCT	XP_016885063.1:n.532+332_532+335delinsATCT
NM_000284.4:c.418+332_418+335delinsATCT MANE Select	NP_000275.1:n.418+332_418+335delinsATCT
NM_001173454.2:c.532+332_532+335delinsATCT	NP_001166925.1:n.532+332_532+335delinsATCT
NM_001173455.2:c.439+332_439+335delinsATCT	NP_001166926.1:n.439+332_439+335delinsATCT
NM_001173456.2:c.418+332_418+335delinsATCT	NP_001166927.1:n.418+332_418+335delinsATCT