Canonical Allele Identifier: CA2418224507

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357456_19357465delinsGATGAAATAT , CM000685.2:g.19357456_19357465delinsGATGAAATAT	GRCh38
NC_000023.10:g.19375574_19375583delinsGATGAAATAT , CM000685.1:g.19375574_19375583delinsGATGAAATAT	GRCh37
NC_000023.9:g.19285495_19285504delinsGATGAAATAT	NCBI36
NG_016781.1:g.18564_18573delinsGATGAAATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-196_853-187delinsGATGAAATAT	ENSP00000348062.6:n.853-196_853-187delinsGATGAAATAT
ENST00000379805.4:c.*524-196_*524-187delinsGATGAAATAT	ENSP00000369133.3:n.*524-196_*524-187delinsGATGAAATAT
ENST00000417819.6:c.916-196_916-187delinsGATGAAATAT	ENSP00000404616.2:n.916-196_916-187delinsGATGAAATAT
ENST00000423505.6:c.946-196_946-187delinsGATGAAATAT	ENSP00000406473.2:n.946-196_946-187delinsGATGAAATAT
ENST00000481733.2:n.627-196_627-187delinsGATGAAATAT
ENST00000696704.1:c.*164-196_*164-187delinsGATGAAATAT	ENSP00000512823.1:n.*164-196_*164-187delinsGATGAAATAT
ENST00000696705.1:c.*287-196_*287-187delinsGATGAAATAT	ENSP00000512824.1:n.*287-196_*287-187delinsGATGAAATAT
ENST00000422285.7:c.832-196_832-187delinsGATGAAATAT MANE Select	ENSP00000394382.2:n.832-196_832-187delinsGATGAAATAT
ENST00000379804.1:c.-12-196_-12-187delinsGATGAAATAT	ENSP00000369132.1:n.-12-196_-12-187delinsGATGAAATAT
ENST00000379806.9:c.946-196_946-187delinsGATGAAATAT	ENSP00000369134.5:n.946-196_946-187delinsGATGAAATAT
ENST00000422285.6:c.832-196_832-187delinsGATGAAATAT	ENSP00000394382.2:n.832-196_832-187delinsGATGAAATAT
ENST00000478795.1:n.75_84delinsGATGAAATAT
ENST00000481733.1:n.260-196_260-187delinsGATGAAATAT
ENST00000540249.5:c.739-196_739-187delinsGATGAAATAT	ENSP00000440761.1:n.739-196_739-187delinsGATGAAATAT
ENST00000545074.5:c.853-196_853-187delinsGATGAAATAT	ENSP00000438550.1:n.853-196_853-187delinsGATGAAATAT
NM_000284.3:c.832-196_832-187delinsGATGAAATAT	NP_000275.1:n.832-196_832-187delinsGATGAAATAT
NM_001173454.1:c.946-196_946-187delinsGATGAAATAT	NP_001166925.1:n.946-196_946-187delinsGATGAAATAT
NM_001173455.1:c.853-196_853-187delinsGATGAAATAT	NP_001166926.1:n.853-196_853-187delinsGATGAAATAT
NM_001173456.1:c.739-196_739-187delinsGATGAAATAT	NP_001166927.1:n.739-196_739-187delinsGATGAAATAT
XM_011545531.1:c.967-196_967-187delinsGATGAAATAT	XP_011543833.1:n.967-196_967-187delinsGATGAAATAT
XM_011545532.1:c.874-196_874-187delinsGATGAAATAT	XP_011543834.1:n.874-196_874-187delinsGATGAAATAT
XM_017029574.2:c.853-196_853-187delinsGATGAAATAT	XP_016885063.1:n.853-196_853-187delinsGATGAAATAT
NM_000284.4:c.832-196_832-187delinsGATGAAATAT MANE Select	NP_000275.1:n.832-196_832-187delinsGATGAAATAT
NM_001173454.2:c.946-196_946-187delinsGATGAAATAT	NP_001166925.1:n.946-196_946-187delinsGATGAAATAT
NM_001173455.2:c.853-196_853-187delinsGATGAAATAT	NP_001166926.1:n.853-196_853-187delinsGATGAAATAT
NM_001173456.2:c.739-196_739-187delinsGATGAAATAT	NP_001166927.1:n.739-196_739-187delinsGATGAAATAT