Canonical Allele Identifier: CA2695231648

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357679_19357682dup , CM000685.2:g.19357679_19357682dup	GRCh38
NC_000023.10:g.19375797_19375800dup , CM000685.1:g.19375797_19375800dup	GRCh37
NC_000023.9:g.19285718_19285721dup	NCBI36
NG_016781.1:g.18787_18790dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.880_883dup	ENSP00000348062.6:p.Arg295LeufsTer10
ENST00000379805.4:c.*551_*554dup	ENSP00000369133.3:n.*551_*554dup
ENST00000417819.6:c.943_946dup	ENSP00000404616.2:p.Arg316LeufsTer10
ENST00000423505.6:c.973_976dup	ENSP00000406473.2:p.Arg326LeufsTer10
ENST00000481733.2:n.654_657dup
ENST00000696704.1:c.*191_*194dup	ENSP00000512823.1:n.*191_*194dup
ENST00000696705.1:c.*314_*317dup	ENSP00000512824.1:n.*314_*317dup
ENST00000422285.7:c.859_862dup MANE Select	ENSP00000394382.2:p.Arg288LeufsTer10
ENST00000379804.1:c.16_19dup	ENSP00000369132.1:p.Arg7LeufsTer10
ENST00000379806.9:c.973_976dup	ENSP00000369134.5:p.Arg326LeufsTer10
ENST00000422285.6:c.859_862dup	ENSP00000394382.2:p.Arg288LeufsTer10
ENST00000478795.1:n.298_301dup
ENST00000481733.1:n.287_290dup
ENST00000540249.5:c.766_769dup	ENSP00000440761.1:p.Arg257LeufsTer10
ENST00000545074.5:c.880_883dup	ENSP00000438550.1:p.Arg295LeufsTer10
NM_000284.3:c.859_862dup	NP_000275.1:p.Arg288LeufsTer10
NM_001173454.1:c.973_976dup	NP_001166925.1:p.Arg326LeufsTer10
NM_001173455.1:c.880_883dup	NP_001166926.1:p.Arg295LeufsTer10
NM_001173456.1:c.766_769dup	NP_001166927.1:p.Arg257LeufsTer10
XM_011545531.1:c.994_997dup	XP_011543833.1:p.Arg333LeufsTer10
XM_011545532.1:c.901_904dup	XP_011543834.1:p.Arg302LeufsTer10
XM_017029574.2:c.880_883dup	XP_016885063.1:p.Arg295LeufsTer10
NM_000284.4:c.859_862dup MANE Select	NP_000275.1:p.Arg288LeufsTer10
NM_001173454.2:c.973_976dup	NP_001166925.1:p.Arg326LeufsTer10
NM_001173455.2:c.880_883dup	NP_001166926.1:p.Arg295LeufsTer10
NM_001173456.2:c.766_769dup	NP_001166927.1:p.Arg257LeufsTer10