Canonical Allele Identifier: CA2841780290

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358964dup , CM000685.2:g.19358964dup	GRCh38
NC_000023.10:g.19377082dup , CM000685.1:g.19377082dup	GRCh37
NC_000023.9:g.19287003dup	NCBI36
NG_016781.1:g.20072dup
NG_021184.1:g.161298dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.969dup	ENSP00000348062.6:p.Ile324TyrfsTer23
ENST00000379805.4:c.*640dup	ENSP00000369133.3:n.*640dup
ENST00000417819.6:c.1032dup	ENSP00000404616.2:p.Ile345TyrfsTer23
ENST00000423505.6:c.1062dup	ENSP00000406473.2:p.Ile355TyrfsTer23
ENST00000481733.2:n.743dup
ENST00000696704.1:c.*280dup	ENSP00000512823.1:n.*280dup
ENST00000696705.1:c.*403dup	ENSP00000512824.1:n.*403dup
ENST00000422285.7:c.948dup MANE Select	ENSP00000394382.2:p.Ile317TyrfsTer23
ENST00000379804.1:c.105dup	ENSP00000369132.1:p.Ile36TyrfsTer23
ENST00000379806.9:c.1062dup	ENSP00000369134.5:p.Ile355TyrfsTer23
ENST00000422285.6:c.948dup	ENSP00000394382.2:p.Ile317TyrfsTer23
ENST00000478795.1:n.387dup
ENST00000481733.1:n.376dup
ENST00000540249.5:c.855dup	ENSP00000440761.1:p.Ile286TyrfsTer23
ENST00000545074.5:c.969dup	ENSP00000438550.1:p.Ile324TyrfsTer23
NM_000284.3:c.948dup	NP_000275.1:p.Ile317TyrfsTer23
NM_001173454.1:c.1062dup	NP_001166925.1:p.Ile355TyrfsTer23
NM_001173455.1:c.969dup	NP_001166926.1:p.Ile324TyrfsTer23
NM_001173456.1:c.855dup	NP_001166927.1:p.Ile286TyrfsTer23
XM_011545531.1:c.1083dup	XP_011543833.1:p.Ile362TyrfsTer23
XM_011545532.1:c.990dup	XP_011543834.1:p.Ile331TyrfsTer23
XM_017029574.2:c.969dup	XP_016885063.1:p.Ile324TyrfsTer23
NM_000284.4:c.948dup MANE Select	NP_000275.1:p.Ile317TyrfsTer23
NM_001173454.2:c.1062dup	NP_001166925.1:p.Ile355TyrfsTer23
NM_001173455.2:c.969dup	NP_001166926.1:p.Ile324TyrfsTer23
NM_001173456.2:c.855dup	NP_001166927.1:p.Ile286TyrfsTer23