Canonical Allele Identifier: CA2580100429

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 10888
• ClinVar RCV Id: RCV000011635

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359007_19359019dup , CM000685.2:g.19359007_19359019dup	GRCh38
NC_000023.10:g.19377125_19377137dup , CM000685.1:g.19377125_19377137dup	GRCh37
NC_000023.9:g.19287046_19287058dup	NCBI36
NG_016781.1:g.20115_20127dup
NG_021184.1:g.161244_161256dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1012_1024dup	ENSP00000348062.6:p.Leu342GlnfsTer9
ENST00000379805.4:c.*683_*695dup	ENSP00000369133.3:n.*683_*695dup
ENST00000417819.6:c.1075_1087dup	ENSP00000404616.2:p.Leu363GlnfsTer9
ENST00000423505.6:c.1105_1117dup	ENSP00000406473.2:p.Leu373GlnfsTer9
ENST00000481733.2:n.786_798dup
ENST00000696704.1:c.*323_*335dup	ENSP00000512823.1:n.*323_*335dup
ENST00000696705.1:c.*446_*458dup	ENSP00000512824.1:n.*446_*458dup
ENST00000422285.7:c.991_1003dup MANE Select	ENSP00000394382.2:p.Leu335GlnfsTer9
ENST00000379804.1:c.148_160dup	ENSP00000369132.1:p.Leu54GlnfsTer9
ENST00000379806.9:c.1105_1117dup	ENSP00000369134.5:p.Leu373GlnfsTer9
ENST00000422285.6:c.991_1003dup	ENSP00000394382.2:p.Leu335GlnfsTer9
ENST00000478795.1:n.430_442dup
ENST00000481733.1:n.419_431dup
ENST00000540249.5:c.898_910dup	ENSP00000440761.1:p.Leu304GlnfsTer9
ENST00000545074.5:c.1012_1024dup	ENSP00000438550.1:p.Leu342GlnfsTer9
NM_000284.3:c.991_1003dup	NP_000275.1:p.Leu335GlnfsTer9
NM_001173454.1:c.1105_1117dup	NP_001166925.1:p.Leu373GlnfsTer9
NM_001173455.1:c.1012_1024dup	NP_001166926.1:p.Leu342GlnfsTer9
NM_001173456.1:c.898_910dup	NP_001166927.1:p.Leu304GlnfsTer9
XM_011545531.1:c.1126_1138dup	XP_011543833.1:p.Leu380GlnfsTer9
XM_011545532.1:c.1033_1045dup	XP_011543834.1:p.Leu349GlnfsTer9
XM_017029574.2:c.1012_1024dup	XP_016885063.1:p.Leu342GlnfsTer9
NM_000284.4:c.991_1003dup MANE Select	NP_000275.1:p.Leu335GlnfsTer9
NM_001173454.2:c.1105_1117dup	NP_001166925.1:p.Leu373GlnfsTer9
NM_001173455.2:c.1012_1024dup	NP_001166926.1:p.Leu342GlnfsTer9
NM_001173456.2:c.898_910dup	NP_001166927.1:p.Leu304GlnfsTer9