Canonical Allele Identifier: CA2819937220

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359835_19359836insCAA , CM000685.2:g.19359835_19359836insCAA	GRCh38
NC_000023.10:g.19377953_19377954insCAA , CM000685.1:g.19377953_19377954insCAA	GRCh37
NC_000023.9:g.19287874_19287875insCAA	NCBI36
NG_016781.1:g.20943_20944insCAA
NG_021184.1:g.160426_160427insTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*182_*183insCAA	ENSP00000348062.6:n.*182_*183insCAA
ENST00000417819.6:c.*182_*183insCAA	ENSP00000404616.2:n.*182_*183insCAA
ENST00000423505.6:c.*182_*183insCAA	ENSP00000406473.2:n.*182_*183insCAA
ENST00000481733.2:n.1150_1151insCAA
ENST00000696704.1:c.*687_*688insCAA	ENSP00000512823.1:n.*687_*688insCAA
ENST00000696705.1:c.*810_*811insCAA	ENSP00000512824.1:n.*810_*811insCAA
ENST00000422285.7:c.*182_*183insCAA MANE Select	ENSP00000394382.2:n.*182_*183insCAA
ENST00000379804.1:c.*182_*183insCAA	ENSP00000369132.1:n.*182_*183insCAA
ENST00000379806.9:c.*182_*183insCAA	ENSP00000369134.5:n.*182_*183insCAA
ENST00000422285.6:c.*182_*183insCAA	ENSP00000394382.2:n.*182_*183insCAA
ENST00000540249.5:c.*182_*183insCAA	ENSP00000440761.1:n.*182_*183insCAA
ENST00000545074.5:c.*182_*183insCAA	ENSP00000438550.1:n.*182_*183insCAA
NM_000284.3:c.*182_*183insCAA	NP_000275.1:n.*182_*183insCAA
NM_001173454.1:c.*182_*183insCAA	NP_001166925.1:n.*182_*183insCAA
NM_001173455.1:c.*182_*183insCAA	NP_001166926.1:n.*182_*183insCAA
NM_001173456.1:c.*182_*183insCAA	NP_001166927.1:n.*182_*183insCAA
XM_011545531.1:c.*182_*183insCAA	XP_011543833.1:n.*182_*183insCAA
XM_011545532.1:c.*182_*183insCAA	XP_011543834.1:n.*182_*183insCAA
XM_017029574.2:c.*182_*183insCAA	XP_016885063.1:n.*182_*183insCAA
NM_000284.4:c.*182_*183insCAA MANE Select	NP_000275.1:n.*182_*183insCAA
NM_001173454.2:c.*182_*183insCAA	NP_001166925.1:n.*182_*183insCAA
NM_001173455.2:c.*182_*183insCAA	NP_001166926.1:n.*182_*183insCAA
NM_001173456.2:c.*182_*183insCAA	NP_001166927.1:n.*182_*183insCAA