Canonical Allele Identifier: CA2695231649

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357710dup , CM000685.2:g.19357710dup	GRCh38
NC_000023.10:g.19375828dup , CM000685.1:g.19375828dup	GRCh37
NC_000023.9:g.19285749dup	NCBI36
NG_016781.1:g.18818dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.911dup	ENSP00000348062.6:p.Gly305TrpfsTer16
ENST00000379805.4:c.*582dup	ENSP00000369133.3:n.*582dup
ENST00000417819.6:c.974dup	ENSP00000404616.2:p.Gly326TrpfsTer16
ENST00000423505.6:c.1004dup	ENSP00000406473.2:p.Gly336TrpfsTer16
ENST00000481733.2:n.685dup
ENST00000696704.1:c.*222dup	ENSP00000512823.1:n.*222dup
ENST00000696705.1:c.*345dup	ENSP00000512824.1:n.*345dup
ENST00000422285.7:c.890dup MANE Select	ENSP00000394382.2:p.Gly298TrpfsTer16
ENST00000379804.1:c.47dup	ENSP00000369132.1:p.Gly17TrpfsTer16
ENST00000379806.9:c.1004dup	ENSP00000369134.5:p.Gly336TrpfsTer16
ENST00000422285.6:c.890dup	ENSP00000394382.2:p.Gly298TrpfsTer16
ENST00000478795.1:n.329dup
ENST00000481733.1:n.318dup
ENST00000540249.5:c.797dup	ENSP00000440761.1:p.Gly267TrpfsTer16
ENST00000545074.5:c.911dup	ENSP00000438550.1:p.Gly305TrpfsTer16
NM_000284.3:c.890dup	NP_000275.1:p.Gly298TrpfsTer16
NM_001173454.1:c.1004dup	NP_001166925.1:p.Gly336TrpfsTer16
NM_001173455.1:c.911dup	NP_001166926.1:p.Gly305TrpfsTer16
NM_001173456.1:c.797dup	NP_001166927.1:p.Gly267TrpfsTer16
XM_011545531.1:c.1025dup	XP_011543833.1:p.Gly343TrpfsTer16
XM_011545532.1:c.932dup	XP_011543834.1:p.Gly312TrpfsTer16
XM_017029574.2:c.911dup	XP_016885063.1:p.Gly305TrpfsTer16
NM_000284.4:c.890dup MANE Select	NP_000275.1:p.Gly298TrpfsTer16
NM_001173454.2:c.1004dup	NP_001166925.1:p.Gly336TrpfsTer16
NM_001173455.2:c.911dup	NP_001166926.1:p.Gly305TrpfsTer16
NM_001173456.2:c.797dup	NP_001166927.1:p.Gly267TrpfsTer16