Canonical Allele Identifier: CA2504610432

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359795_19359796insTC , CM000685.2:g.19359795_19359796insTC	GRCh38
NC_000023.10:g.19377913_19377914insTC , CM000685.1:g.19377913_19377914insTC	GRCh37
NC_000023.9:g.19287834_19287835insTC	NCBI36
NG_016781.1:g.20903_20904insTC
NG_021184.1:g.160466_160467insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*142_*143insTC	ENSP00000348062.6:n.*142_*143insTC
ENST00000379805.4:c.*1007_*1008insTC	ENSP00000369133.3:n.*1007_*1008insTC
ENST00000417819.6:c.*142_*143insTC	ENSP00000404616.2:n.*142_*143insTC
ENST00000423505.6:c.*142_*143insTC	ENSP00000406473.2:n.*142_*143insTC
ENST00000481733.2:n.1110_1111insTC
ENST00000696704.1:c.*647_*648insTC	ENSP00000512823.1:n.*647_*648insTC
ENST00000696705.1:c.*770_*771insTC	ENSP00000512824.1:n.*770_*771insTC
ENST00000422285.7:c.*142_*143insTC MANE Select	ENSP00000394382.2:n.*142_*143insTC
ENST00000379804.1:c.*142_*143insTC	ENSP00000369132.1:n.*142_*143insTC
ENST00000379806.9:c.*142_*143insTC	ENSP00000369134.5:n.*142_*143insTC
ENST00000422285.6:c.*142_*143insTC	ENSP00000394382.2:n.*142_*143insTC
ENST00000478795.1:n.754_755insTC
ENST00000540249.5:c.*142_*143insTC	ENSP00000440761.1:n.*142_*143insTC
ENST00000545074.5:c.*142_*143insTC	ENSP00000438550.1:n.*142_*143insTC
NM_000284.3:c.*142_*143insTC	NP_000275.1:n.*142_*143insTC
NM_001173454.1:c.*142_*143insTC	NP_001166925.1:n.*142_*143insTC
NM_001173455.1:c.*142_*143insTC	NP_001166926.1:n.*142_*143insTC
NM_001173456.1:c.*142_*143insTC	NP_001166927.1:n.*142_*143insTC
XM_011545531.1:c.*142_*143insTC	XP_011543833.1:n.*142_*143insTC
XM_011545532.1:c.*142_*143insTC	XP_011543834.1:n.*142_*143insTC
XM_017029574.2:c.*142_*143insTC	XP_016885063.1:n.*142_*143insTC
NM_000284.4:c.*142_*143insTC MANE Select	NP_000275.1:n.*142_*143insTC
NM_001173454.2:c.*142_*143insTC	NP_001166925.1:n.*142_*143insTC
NM_001173455.2:c.*142_*143insTC	NP_001166926.1:n.*142_*143insTC
NM_001173456.2:c.*142_*143insTC	NP_001166927.1:n.*142_*143insTC