Canonical Allele Identifier: CA2819936948

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357784_19357785insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG , CM000685.2:g.19357784_19357785insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	GRCh38
NC_000023.10:g.19375902_19375903insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG , CM000685.1:g.19375902_19375903insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	GRCh37
NC_000023.9:g.19285823_19285824insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	NCBI36
NG_016781.1:g.18892_18893insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+65_920+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	ENSP00000348062.6:n.920+65_920+66insGAGGAAGCACCAGAACGGACTTCCC...
ENST00000379805.4:c.*591+65_*591+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	ENSP00000369133.3:n.*591+65_*591+66insGAGGAAGCACCAGAACGGACTTC...
ENST00000417819.6:c.983+65_983+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	ENSP00000404616.2:n.983+65_983+66insGAGGAAGCACCAGAACGGACTTCCC...
ENST00000423505.6:c.1013+65_1013+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	ENSP00000406473.2:n.1013+65_1013+66insGAGGAAGCACCAGAACGGACTTC...
ENST00000481733.2:n.694+65_694+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG
ENST00000696704.1:c.*231+65_*231+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	ENSP00000512823.1:n.*231+65_*231+66insGAGGAAGCACCAGAACGGACTTC...
ENST00000696705.1:c.*354+65_*354+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	ENSP00000512824.1:n.*354+65_*354+66insGAGGAAGCACCAGAACGGACTTC...
ENST00000422285.7:c.899+65_899+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG MANE Select	ENSP00000394382.2:n.899+65_899+66insGAGGAAGCACCAGAACGGACTTCCC...
ENST00000379804.1:c.56+65_56+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	ENSP00000369132.1:n.56+65_56+66insGAGGAAGCACCAGAACGGACTTCCCCC...
ENST00000379806.9:c.1013+65_1013+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	ENSP00000369134.5:n.1013+65_1013+66insGAGGAAGCACCAGAACGGACTTC...
ENST00000422285.6:c.899+65_899+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	ENSP00000394382.2:n.899+65_899+66insGAGGAAGCACCAGAACGGACTTCCC...
ENST00000478795.1:n.338+65_338+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG
ENST00000481733.1:n.327+65_327+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG
ENST00000540249.5:c.806+65_806+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	ENSP00000440761.1:n.806+65_806+66insGAGGAAGCACCAGAACGGACTTCCC...
ENST00000545074.5:c.920+65_920+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	ENSP00000438550.1:n.920+65_920+66insGAGGAAGCACCAGAACGGACTTCCC...
NM_000284.3:c.899+65_899+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	NP_000275.1:n.899+65_899+66insGAGGAAGCACCAGAACGGACTTCCCCCAAAT...
NM_001173454.1:c.1013+65_1013+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	NP_001166925.1:n.1013+65_1013+66insGAGGAAGCACCAGAACGGACTTCCCC...
NM_001173455.1:c.920+65_920+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	NP_001166926.1:n.920+65_920+66insGAGGAAGCACCAGAACGGACTTCCCCCA...
NM_001173456.1:c.806+65_806+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	NP_001166927.1:n.806+65_806+66insGAGGAAGCACCAGAACGGACTTCCCCCA...
XM_011545531.1:c.1034+65_1034+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	XP_011543833.1:n.1034+65_1034+66insGAGGAAGCACCAGAACGGACTTCCCC...
XM_011545532.1:c.941+65_941+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	XP_011543834.1:n.941+65_941+66insGAGGAAGCACCAGAACGGACTTCCCCCA...
XM_017029574.2:c.920+65_920+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	XP_016885063.1:n.920+65_920+66insGAGGAAGCACCAGAACGGACTTCCCCCA...
NM_000284.4:c.899+65_899+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG MANE Select	NP_000275.1:n.899+65_899+66insGAGGAAGCACCAGAACGGACTTCCCCCAAAT...
NM_001173454.2:c.1013+65_1013+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	NP_001166925.1:n.1013+65_1013+66insGAGGAAGCACCAGAACGGACTTCCCC...
NM_001173455.2:c.920+65_920+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	NP_001166926.1:n.920+65_920+66insGAGGAAGCACCAGAACGGACTTCCCCCA...
NM_001173456.2:c.806+65_806+66insGAGGAAGCACCAGAACGGACTTCCCCCAAATGAG	NP_001166927.1:n.806+65_806+66insGAGGAAGCACCAGAACGGACTTCCCCCA...