Canonical Allele Identifier: CA2580615401

Gene: PDHA1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358950_19358956dup , CM000685.2:g.19358950_19358956dup	GRCh38
NC_000023.10:g.19377068_19377074dup , CM000685.1:g.19377068_19377074dup	GRCh37
NC_000023.9:g.19286989_19286995dup	NCBI36
NG_016781.1:g.20058_20064dup
NG_021184.1:g.161315_161321dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.955_961dup	ENSP00000348062.6:p.Ser321LysfsTer2
ENST00000379805.4:c.*626_*632dup	ENSP00000369133.3:n.*626_*632dup
ENST00000417819.6:c.1018_1024dup	ENSP00000404616.2:p.Ser342LysfsTer2
ENST00000423505.6:c.1048_1054dup	ENSP00000406473.2:p.Ser352LysfsTer2
ENST00000481733.2:n.729_735dup
ENST00000696704.1:c.*266_*272dup	ENSP00000512823.1:n.*266_*272dup
ENST00000696705.1:c.*389_*395dup	ENSP00000512824.1:n.*389_*395dup
ENST00000422285.7:c.934_940dup MANE Select	ENSP00000394382.2:p.Ser314LysfsTer2
ENST00000379804.1:c.91_97dup	ENSP00000369132.1:p.Ser33LysfsTer2
ENST00000379806.9:c.1048_1054dup	ENSP00000369134.5:p.Ser352LysfsTer2
ENST00000422285.6:c.934_940dup	ENSP00000394382.2:p.Ser314LysfsTer2
ENST00000478795.1:n.373_379dup
ENST00000481733.1:n.362_368dup
ENST00000540249.5:c.841_847dup	ENSP00000440761.1:p.Ser283LysfsTer2
ENST00000545074.5:c.955_961dup	ENSP00000438550.1:p.Ser321LysfsTer2
NM_000284.3:c.934_940dup	NP_000275.1:p.Ser314LysfsTer2
NM_001173454.1:c.1048_1054dup	NP_001166925.1:p.Ser352LysfsTer2
NM_001173455.1:c.955_961dup	NP_001166926.1:p.Ser321LysfsTer2
NM_001173456.1:c.841_847dup	NP_001166927.1:p.Ser283LysfsTer2
XM_011545531.1:c.1069_1075dup	XP_011543833.1:p.Ser359LysfsTer2
XM_011545532.1:c.976_982dup	XP_011543834.1:p.Ser328LysfsTer2
XM_017029574.2:c.955_961dup	XP_016885063.1:p.Ser321LysfsTer2
NM_000284.4:c.934_940dup MANE Select	NP_000275.1:p.Ser314LysfsTer2
NM_001173454.2:c.1048_1054dup	NP_001166925.1:p.Ser352LysfsTer2
NM_001173455.2:c.955_961dup	NP_001166926.1:p.Ser321LysfsTer2
NM_001173456.2:c.841_847dup	NP_001166927.1:p.Ser283LysfsTer2