Canonical Allele Identifier: CA2418225628

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359651_19359657delinsTAAGGGG , CM000685.2:g.19359651_19359657delinsTAAGGGG	GRCh38
NC_000023.10:g.19377769_19377775delinsTAAGGGG , CM000685.1:g.19377769_19377775delinsTAAGGGG	GRCh37
NC_000023.9:g.19287690_19287696delinsTAAGGGG	NCBI36
NG_016781.1:g.20759_20765delinsTAAGGGG
NG_021184.1:g.160605_160611delinsCCCCTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1192_*4delinsTAAGGGG	ENSP00000348062.6:n.[c.1192_*4delinsTAAGGGG;Ter398=]
ENST00000379805.4:c.*863_*869delinsTAAGGGG	ENSP00000369133.3:n.*863_*869delinsTAAGGGG
ENST00000417819.6:c.1255_*4delinsTAAGGGG	ENSP00000404616.2:n.[c.1255_*4delinsTAAGGGG;Ter419=]
ENST00000423505.6:c.1285_*4delinsTAAGGGG	ENSP00000406473.2:n.[c.1285_*4delinsTAAGGGG;Ter429=]
ENST00000481733.2:n.966_972delinsTAAGGGG
ENST00000696704.1:c.*503_*509delinsTAAGGGG	ENSP00000512823.1:n.*503_*509delinsTAAGGGG
ENST00000696705.1:c.*626_*632delinsTAAGGGG	ENSP00000512824.1:n.*626_*632delinsTAAGGGG
ENST00000422285.7:c.1171_*4delinsTAAGGGG MANE Select	ENSP00000394382.2:n.[c.1171_*4delinsTAAGGGG;Ter391=]
ENST00000379804.1:c.328_*4delinsTAAGGGG	ENSP00000369132.1:n.[c.328_*4delinsTAAGGGG;Ter110=]
ENST00000379806.9:c.1285_*4delinsTAAGGGG	ENSP00000369134.5:n.[c.1285_*4delinsTAAGGGG;Ter429=]
ENST00000422285.6:c.1171_*4delinsTAAGGGG	ENSP00000394382.2:n.[c.1171_*4delinsTAAGGGG;Ter391=]
ENST00000478795.1:n.610_616delinsTAAGGGG
ENST00000540249.5:c.1078_*4delinsTAAGGGG	ENSP00000440761.1:n.[c.1078_*4delinsTAAGGGG;Ter360=]
ENST00000545074.5:c.1192_*4delinsTAAGGGG	ENSP00000438550.1:n.[c.1192_*4delinsTAAGGGG;Ter398=]
NM_000284.3:c.1171_*4delinsTAAGGGG	NP_000275.1:n.[c.1171_*4delinsTAAGGGG;Ter391=]
NM_001173454.1:c.1285_*4delinsTAAGGGG	NP_001166925.1:n.[c.1285_*4delinsTAAGGGG;Ter429=]
NM_001173455.1:c.1192_*4delinsTAAGGGG	NP_001166926.1:n.[c.1192_*4delinsTAAGGGG;Ter398=]
NM_001173456.1:c.1078_*4delinsTAAGGGG	NP_001166927.1:n.[c.1078_*4delinsTAAGGGG;Ter360=]
XM_011545531.1:c.1306_*4delinsTAAGGGG	XP_011543833.1:n.[c.1306_*4delinsTAAGGGG;Ter436=]
XM_011545532.1:c.1213_*4delinsTAAGGGG	XP_011543834.1:n.[c.1213_*4delinsTAAGGGG;Ter405=]
XM_017029574.2:c.1192_*4delinsTAAGGGG	XP_016885063.1:n.[c.1192_*4delinsTAAGGGG;Ter398=]
NM_000284.4:c.1171_*4delinsTAAGGGG MANE Select	NP_000275.1:n.[c.1171_*4delinsTAAGGGG;Ter391=]
NM_001173454.2:c.1285_*4delinsTAAGGGG	NP_001166925.1:n.[c.1285_*4delinsTAAGGGG;Ter429=]
NM_001173455.2:c.1192_*4delinsTAAGGGG	NP_001166926.1:n.[c.1192_*4delinsTAAGGGG;Ter398=]
NM_001173456.2:c.1078_*4delinsTAAGGGG	NP_001166927.1:n.[c.1078_*4delinsTAAGGGG;Ter360=]