Canonical Allele Identifier: CA2695231661

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359002_19359014dup , CM000685.2:g.19359002_19359014dup	GRCh38
NC_000023.10:g.19377120_19377132dup , CM000685.1:g.19377120_19377132dup	GRCh37
NC_000023.9:g.19287041_19287053dup	NCBI36
NG_016781.1:g.20110_20122dup
NG_021184.1:g.161248_161260dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1007_1019dup	ENSP00000348062.6:p.Glu340AspfsTer11
ENST00000379805.4:c.*678_*690dup	ENSP00000369133.3:n.*678_*690dup
ENST00000417819.6:c.1070_1082dup	ENSP00000404616.2:p.Glu361AspfsTer11
ENST00000423505.6:c.1100_1112dup	ENSP00000406473.2:p.Glu371AspfsTer11
ENST00000481733.2:n.781_793dup
ENST00000696704.1:c.*318_*330dup	ENSP00000512823.1:n.*318_*330dup
ENST00000696705.1:c.*441_*453dup	ENSP00000512824.1:n.*441_*453dup
ENST00000422285.7:c.986_998dup MANE Select	ENSP00000394382.2:p.Glu333AspfsTer11
ENST00000379804.1:c.143_155dup	ENSP00000369132.1:p.Glu52AspfsTer11
ENST00000379806.9:c.1100_1112dup	ENSP00000369134.5:p.Glu371AspfsTer11
ENST00000422285.6:c.986_998dup	ENSP00000394382.2:p.Glu333AspfsTer11
ENST00000478795.1:n.425_437dup
ENST00000481733.1:n.414_426dup
ENST00000540249.5:c.893_905dup	ENSP00000440761.1:p.Glu302AspfsTer11
ENST00000545074.5:c.1007_1019dup	ENSP00000438550.1:p.Glu340AspfsTer11
NM_000284.3:c.986_998dup	NP_000275.1:p.Glu333AspfsTer11
NM_001173454.1:c.1100_1112dup	NP_001166925.1:p.Glu371AspfsTer11
NM_001173455.1:c.1007_1019dup	NP_001166926.1:p.Glu340AspfsTer11
NM_001173456.1:c.893_905dup	NP_001166927.1:p.Glu302AspfsTer11
XM_011545531.1:c.1121_1133dup	XP_011543833.1:p.Glu378AspfsTer11
XM_011545532.1:c.1028_1040dup	XP_011543834.1:p.Glu347AspfsTer11
XM_017029574.2:c.1007_1019dup	XP_016885063.1:p.Glu340AspfsTer11
NM_000284.4:c.986_998dup MANE Select	NP_000275.1:p.Glu333AspfsTer11
NM_001173454.2:c.1100_1112dup	NP_001166925.1:p.Glu371AspfsTer11
NM_001173455.2:c.1007_1019dup	NP_001166926.1:p.Glu340AspfsTer11
NM_001173456.2:c.893_905dup	NP_001166927.1:p.Glu302AspfsTer11