Canonical Allele Identifier: CA2418223734

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355671_19355673delinsCCT , CM000685.2:g.19355671_19355673delinsCCT	GRCh38
NC_000023.10:g.19373789_19373791delinsCCT , CM000685.1:g.19373789_19373791delinsCCT	GRCh37
NC_000023.9:g.19283710_19283712delinsCCT	NCBI36
NG_016781.1:g.16779_16781delinsCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.781-15_781-13delinsCCT	ENSP00000348062.6:n.781-15_781-13delinsCCT
ENST00000379805.4:c.*452-15_*452-13delinsCCT	ENSP00000369133.3:n.*452-15_*452-13delinsCCT
ENST00000417819.6:c.844-15_844-13delinsCCT	ENSP00000404616.2:n.844-15_844-13delinsCCT
ENST00000423505.6:c.874-15_874-13delinsCCT	ENSP00000406473.2:n.874-15_874-13delinsCCT
ENST00000481733.2:n.555-15_555-13delinsCCT
ENST00000696704.1:c.*92-15_*92-13delinsCCT	ENSP00000512823.1:n.*92-15_*92-13delinsCCT
ENST00000696705.1:c.*215-15_*215-13delinsCCT	ENSP00000512824.1:n.*215-15_*215-13delinsCCT
ENST00000422285.7:c.760-15_760-13delinsCCT MANE Select	ENSP00000394382.2:n.760-15_760-13delinsCCT
ENST00000379804.1:c.-99_-97delinsCCT	ENSP00000369132.1:n.-99_-97delinsCCT
ENST00000379806.9:c.874-15_874-13delinsCCT	ENSP00000369134.5:n.874-15_874-13delinsCCT
ENST00000422285.6:c.760-15_760-13delinsCCT	ENSP00000394382.2:n.760-15_760-13delinsCCT
ENST00000481733.1:n.188-15_188-13delinsCCT
ENST00000540249.5:c.667-15_667-13delinsCCT	ENSP00000440761.1:n.667-15_667-13delinsCCT
ENST00000545074.5:c.781-15_781-13delinsCCT	ENSP00000438550.1:n.781-15_781-13delinsCCT
NM_000284.3:c.760-15_760-13delinsCCT	NP_000275.1:n.760-15_760-13delinsCCT
NM_001173454.1:c.874-15_874-13delinsCCT	NP_001166925.1:n.874-15_874-13delinsCCT
NM_001173455.1:c.781-15_781-13delinsCCT	NP_001166926.1:n.781-15_781-13delinsCCT
NM_001173456.1:c.667-15_667-13delinsCCT	NP_001166927.1:n.667-15_667-13delinsCCT
XM_011545531.1:c.895-15_895-13delinsCCT	XP_011543833.1:n.895-15_895-13delinsCCT
XM_011545532.1:c.802-15_802-13delinsCCT	XP_011543834.1:n.802-15_802-13delinsCCT
XM_017029574.2:c.781-15_781-13delinsCCT	XP_016885063.1:n.781-15_781-13delinsCCT
NM_000284.4:c.760-15_760-13delinsCCT MANE Select	NP_000275.1:n.760-15_760-13delinsCCT
NM_001173454.2:c.874-15_874-13delinsCCT	NP_001166925.1:n.874-15_874-13delinsCCT
NM_001173455.2:c.781-15_781-13delinsCCT	NP_001166926.1:n.781-15_781-13delinsCCT
NM_001173456.2:c.667-15_667-13delinsCCT	NP_001166927.1:n.667-15_667-13delinsCCT