Canonical Allele Identifier: CA2695231676

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359619_19359622dup , CM000685.2:g.19359619_19359622dup	GRCh38
NC_000023.10:g.19377737_19377740dup , CM000685.1:g.19377737_19377740dup	GRCh37
NC_000023.9:g.19287658_19287661dup	NCBI36
NG_016781.1:g.20727_20730dup
NG_021184.1:g.160640_160643dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1160_1163dup	ENSP00000348062.6:p.Trp390SerfsTer6
ENST00000379805.4:c.*831_*834dup	ENSP00000369133.3:n.*831_*834dup
ENST00000417819.6:c.1223_1226dup	ENSP00000404616.2:p.Trp411SerfsTer6
ENST00000423505.6:c.1253_1256dup	ENSP00000406473.2:p.Trp421SerfsTer6
ENST00000481733.2:n.934_937dup
ENST00000696704.1:c.*471_*474dup	ENSP00000512823.1:n.*471_*474dup
ENST00000696705.1:c.*594_*597dup	ENSP00000512824.1:n.*594_*597dup
ENST00000422285.7:c.1139_1142dup MANE Select	ENSP00000394382.2:p.Trp383SerfsTer6
ENST00000379804.1:c.296_299dup	ENSP00000369132.1:p.Trp102SerfsTer6
ENST00000379806.9:c.1253_1256dup	ENSP00000369134.5:p.Trp421SerfsTer6
ENST00000422285.6:c.1139_1142dup	ENSP00000394382.2:p.Trp383SerfsTer6
ENST00000478795.1:n.578_581dup
ENST00000540249.5:c.1046_1049dup	ENSP00000440761.1:p.Trp352SerfsTer6
ENST00000545074.5:c.1160_1163dup	ENSP00000438550.1:p.Trp390SerfsTer6
NM_000284.3:c.1139_1142dup	NP_000275.1:p.Trp383SerfsTer6
NM_001173454.1:c.1253_1256dup	NP_001166925.1:p.Trp421SerfsTer6
NM_001173455.1:c.1160_1163dup	NP_001166926.1:p.Trp390SerfsTer6
NM_001173456.1:c.1046_1049dup	NP_001166927.1:p.Trp352SerfsTer6
XM_011545531.1:c.1274_1277dup	XP_011543833.1:p.Trp428SerfsTer6
XM_011545532.1:c.1181_1184dup	XP_011543834.1:p.Trp397SerfsTer6
XM_017029574.2:c.1160_1163dup	XP_016885063.1:p.Trp390SerfsTer6
NM_000284.4:c.1139_1142dup MANE Select	NP_000275.1:p.Trp383SerfsTer6
NM_001173454.2:c.1253_1256dup	NP_001166925.1:p.Trp421SerfsTer6
NM_001173455.2:c.1160_1163dup	NP_001166926.1:p.Trp390SerfsTer6
NM_001173456.2:c.1046_1049dup	NP_001166927.1:p.Trp352SerfsTer6