Canonical Allele Identifier: CA16043242

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 372714
• ClinVar RCV Id: RCV000413173 ; RCV001753844
• dbSNP Id: rs1555934859
• MyVariant Identifiers: chrX:g.19375796_19375799dupTTAC (hg19) ; chrX:g.19375799_19375800insTTAC (hg19) ; chrX:g.19357678_19357681dupTTAC (hg38) ; chrX:g.19357681_19357682insTTAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357678_19357681dup , CM000685.2:g.19357678_19357681dup	GRCh38
NC_000023.10:g.19375796_19375799dup , CM000685.1:g.19375796_19375799dup	GRCh37
NC_000023.9:g.19285717_19285720dup	NCBI36
NG_016781.1:g.18786_18789dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.879_882dup	ENSP00000348062.6:p.Arg295LeufsTer10
ENST00000379805.4:c.*550_*553dup	ENSP00000369133.3:n.*550_*553dup
ENST00000417819.6:c.942_945dup	ENSP00000404616.2:p.Arg316LeufsTer10
ENST00000423505.6:c.972_975dup	ENSP00000406473.2:p.Arg326LeufsTer10
ENST00000481733.2:n.653_656dup
ENST00000696704.1:c.*190_*193dup	ENSP00000512823.1:n.*190_*193dup
ENST00000696705.1:c.*313_*316dup	ENSP00000512824.1:n.*313_*316dup
ENST00000422285.7:c.858_861dup MANE Select	ENSP00000394382.2:p.Arg288LeufsTer10
ENST00000379804.1:c.15_18dup	ENSP00000369132.1:p.Arg7LeufsTer10
ENST00000379806.9:c.972_975dup	ENSP00000369134.5:p.Arg326LeufsTer10
ENST00000422285.6:c.858_861dup	ENSP00000394382.2:p.Arg288LeufsTer10
ENST00000478795.1:n.297_300dup
ENST00000481733.1:n.286_289dup
ENST00000540249.5:c.765_768dup	ENSP00000440761.1:p.Arg257LeufsTer10
ENST00000545074.5:c.879_882dup	ENSP00000438550.1:p.Arg295LeufsTer10
NM_000284.3:c.858_861dup	NP_000275.1:p.Arg288LeufsTer10
NM_001173454.1:c.972_975dup	NP_001166925.1:p.Arg326LeufsTer10
NM_001173455.1:c.879_882dup	NP_001166926.1:p.Arg295LeufsTer10
NM_001173456.1:c.765_768dup	NP_001166927.1:p.Arg257LeufsTer10
XM_011545531.1:c.993_996dup	XP_011543833.1:p.Arg333LeufsTer10
XM_011545532.1:c.900_903dup	XP_011543834.1:p.Arg302LeufsTer10
XM_017029574.2:c.879_882dup	XP_016885063.1:p.Arg295LeufsTer10
NM_000284.4:c.858_861dup MANE Select	NP_000275.1:p.Arg288LeufsTer10
NM_001173454.2:c.972_975dup	NP_001166925.1:p.Arg326LeufsTer10
NM_001173455.2:c.879_882dup	NP_001166926.1:p.Arg295LeufsTer10
NM_001173456.2:c.765_768dup	NP_001166927.1:p.Arg257LeufsTer10