Canonical Allele Identifier: CA2502035984

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359775_19359776insACTGACTTAAACT , CM000685.2:g.19359775_19359776insACTGACTTAAACT	GRCh38
NC_000023.10:g.19377893_19377894insACTGACTTAAACT , CM000685.1:g.19377893_19377894insACTGACTTAAACT	GRCh37
NC_000023.9:g.19287814_19287815insACTGACTTAAACT	NCBI36
NG_016781.1:g.20883_20884insACTGACTTAAACT
NG_021184.1:g.160486_160487insAGTTTAAGTCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*122_*123insACTGACTTAAACT	ENSP00000348062.6:n.*122_*123insACTGACTTAAACT
ENST00000379805.4:c.*987_*988insACTGACTTAAACT	ENSP00000369133.3:n.*987_*988insACTGACTTAAACT
ENST00000417819.6:c.*122_*123insACTGACTTAAACT	ENSP00000404616.2:n.*122_*123insACTGACTTAAACT
ENST00000423505.6:c.*122_*123insACTGACTTAAACT	ENSP00000406473.2:n.*122_*123insACTGACTTAAACT
ENST00000481733.2:n.1090_1091insACTGACTTAAACT
ENST00000696704.1:c.*627_*628insACTGACTTAAACT	ENSP00000512823.1:n.*627_*628insACTGACTTAAACT
ENST00000696705.1:c.*750_*751insACTGACTTAAACT	ENSP00000512824.1:n.*750_*751insACTGACTTAAACT
ENST00000422285.7:c.*122_*123insACTGACTTAAACT MANE Select	ENSP00000394382.2:n.*122_*123insACTGACTTAAACT
ENST00000379804.1:c.*122_*123insACTGACTTAAACT	ENSP00000369132.1:n.*122_*123insACTGACTTAAACT
ENST00000379806.9:c.*122_*123insACTGACTTAAACT	ENSP00000369134.5:n.*122_*123insACTGACTTAAACT
ENST00000422285.6:c.*122_*123insACTGACTTAAACT	ENSP00000394382.2:n.*122_*123insACTGACTTAAACT
ENST00000478795.1:n.734_735insACTGACTTAAACT
ENST00000540249.5:c.*122_*123insACTGACTTAAACT	ENSP00000440761.1:n.*122_*123insACTGACTTAAACT
ENST00000545074.5:c.*122_*123insACTGACTTAAACT	ENSP00000438550.1:n.*122_*123insACTGACTTAAACT
NM_000284.3:c.*122_*123insACTGACTTAAACT	NP_000275.1:n.*122_*123insACTGACTTAAACT
NM_001173454.1:c.*122_*123insACTGACTTAAACT	NP_001166925.1:n.*122_*123insACTGACTTAAACT
NM_001173455.1:c.*122_*123insACTGACTTAAACT	NP_001166926.1:n.*122_*123insACTGACTTAAACT
NM_001173456.1:c.*122_*123insACTGACTTAAACT	NP_001166927.1:n.*122_*123insACTGACTTAAACT
XM_011545531.1:c.*122_*123insACTGACTTAAACT	XP_011543833.1:n.*122_*123insACTGACTTAAACT
XM_011545532.1:c.*122_*123insACTGACTTAAACT	XP_011543834.1:n.*122_*123insACTGACTTAAACT
XM_017029574.2:c.*122_*123insACTGACTTAAACT	XP_016885063.1:n.*122_*123insACTGACTTAAACT
NM_000284.4:c.*122_*123insACTGACTTAAACT MANE Select	NP_000275.1:n.*122_*123insACTGACTTAAACT
NM_001173454.2:c.*122_*123insACTGACTTAAACT	NP_001166925.1:n.*122_*123insACTGACTTAAACT
NM_001173455.2:c.*122_*123insACTGACTTAAACT	NP_001166926.1:n.*122_*123insACTGACTTAAACT
NM_001173456.2:c.*122_*123insACTGACTTAAACT	NP_001166927.1:n.*122_*123insACTGACTTAAACT