Canonical Allele Identifier: CA2418224542

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357532_19357537delinsAGATCT , CM000685.2:g.19357532_19357537delinsAGATCT	GRCh38
NC_000023.10:g.19375650_19375655delinsAGATCT , CM000685.1:g.19375650_19375655delinsAGATCT	GRCh37
NC_000023.9:g.19285571_19285576delinsAGATCT	NCBI36
NG_016781.1:g.18640_18645delinsAGATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-120_853-115delinsAGATCT	ENSP00000348062.6:n.853-120_853-115delinsAGATCT
ENST00000379805.4:c.*524-120_*524-115delinsAGATCT	ENSP00000369133.3:n.*524-120_*524-115delinsAGATCT
ENST00000417819.6:c.916-120_916-115delinsAGATCT	ENSP00000404616.2:n.916-120_916-115delinsAGATCT
ENST00000423505.6:c.946-120_946-115delinsAGATCT	ENSP00000406473.2:n.946-120_946-115delinsAGATCT
ENST00000481733.2:n.627-120_627-115delinsAGATCT
ENST00000696704.1:c.*164-120_*164-115delinsAGATCT	ENSP00000512823.1:n.*164-120_*164-115delinsAGATCT
ENST00000696705.1:c.*287-120_*287-115delinsAGATCT	ENSP00000512824.1:n.*287-120_*287-115delinsAGATCT
ENST00000422285.7:c.832-120_832-115delinsAGATCT MANE Select	ENSP00000394382.2:n.832-120_832-115delinsAGATCT
ENST00000379804.1:c.-12-120_-12-115delinsAGATCT	ENSP00000369132.1:n.-12-120_-12-115delinsAGATCT
ENST00000379806.9:c.946-120_946-115delinsAGATCT	ENSP00000369134.5:n.946-120_946-115delinsAGATCT
ENST00000422285.6:c.832-120_832-115delinsAGATCT	ENSP00000394382.2:n.832-120_832-115delinsAGATCT
ENST00000478795.1:n.151_156delinsAGATCT
ENST00000481733.1:n.260-120_260-115delinsAGATCT
ENST00000540249.5:c.739-120_739-115delinsAGATCT	ENSP00000440761.1:n.739-120_739-115delinsAGATCT
ENST00000545074.5:c.853-120_853-115delinsAGATCT	ENSP00000438550.1:n.853-120_853-115delinsAGATCT
NM_000284.3:c.832-120_832-115delinsAGATCT	NP_000275.1:n.832-120_832-115delinsAGATCT
NM_001173454.1:c.946-120_946-115delinsAGATCT	NP_001166925.1:n.946-120_946-115delinsAGATCT
NM_001173455.1:c.853-120_853-115delinsAGATCT	NP_001166926.1:n.853-120_853-115delinsAGATCT
NM_001173456.1:c.739-120_739-115delinsAGATCT	NP_001166927.1:n.739-120_739-115delinsAGATCT
XM_011545531.1:c.967-120_967-115delinsAGATCT	XP_011543833.1:n.967-120_967-115delinsAGATCT
XM_011545532.1:c.874-120_874-115delinsAGATCT	XP_011543834.1:n.874-120_874-115delinsAGATCT
XM_017029574.2:c.853-120_853-115delinsAGATCT	XP_016885063.1:n.853-120_853-115delinsAGATCT
NM_000284.4:c.832-120_832-115delinsAGATCT MANE Select	NP_000275.1:n.832-120_832-115delinsAGATCT
NM_001173454.2:c.946-120_946-115delinsAGATCT	NP_001166925.1:n.946-120_946-115delinsAGATCT
NM_001173455.2:c.853-120_853-115delinsAGATCT	NP_001166926.1:n.853-120_853-115delinsAGATCT
NM_001173456.2:c.739-120_739-115delinsAGATCT	NP_001166927.1:n.739-120_739-115delinsAGATCT