Canonical Allele Identifier: CA2580615402
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2432551
ClinVar RCV Id: RCV003131160

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358949_19358951dup , CM000685.2:g.19358949_19358951dup GRCh38
NC_000023.10:g.19377067_19377069dup , CM000685.1:g.19377067_19377069dup GRCh37
NC_000023.9:g.19286988_19286990dup NCBI36
NG_016781.1:g.20057_20059dup
NG_021184.1:g.161314_161316dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.954_956dup ENSP00000348062.6:p.Arg318_Ser319insArg
ENST00000379805.4:c.*625_*627dup ENSP00000369133.3:n.*625_*627dup
ENST00000417819.6:c.1017_1019dup ENSP00000404616.2:p.Arg339_Ser340insArg
ENST00000423505.6:c.1047_1049dup ENSP00000406473.2:p.Arg349_Ser350insArg
ENST00000481733.2:n.728_730dup
ENST00000696704.1:c.*265_*267dup ENSP00000512823.1:n.*265_*267dup
ENST00000696705.1:c.*388_*390dup ENSP00000512824.1:n.*388_*390dup
ENST00000422285.7:c.933_935dup MANE Select ENSP00000394382.2:p.Arg311_Ser312insArg
ENST00000379804.1:c.90_92dup ENSP00000369132.1:p.Arg30_Ser31insArg
ENST00000379806.9:c.1047_1049dup ENSP00000369134.5:p.Arg349_Ser350insArg
ENST00000422285.6:c.933_935dup ENSP00000394382.2:p.Arg311_Ser312insArg
ENST00000478795.1:n.372_374dup
ENST00000481733.1:n.361_363dup
ENST00000540249.5:c.840_842dup ENSP00000440761.1:p.Arg280_Ser281insArg
ENST00000545074.5:c.954_956dup ENSP00000438550.1:p.Arg318_Ser319insArg
NM_000284.3:c.933_935dup NP_000275.1:p.Arg311_Ser312insArg
NM_001173454.1:c.1047_1049dup NP_001166925.1:p.Arg349_Ser350insArg
NM_001173455.1:c.954_956dup NP_001166926.1:p.Arg318_Ser319insArg
NM_001173456.1:c.840_842dup NP_001166927.1:p.Arg280_Ser281insArg
XM_011545531.1:c.1068_1070dup XP_011543833.1:p.Arg356_Ser357insArg
XM_011545532.1:c.975_977dup XP_011543834.1:p.Arg325_Ser326insArg
XM_017029574.2:c.954_956dup XP_016885063.1:p.Arg318_Ser319insArg
NM_000284.4:c.933_935dup MANE Select NP_000275.1:p.Arg311_Ser312insArg
NM_001173454.2:c.1047_1049dup NP_001166925.1:p.Arg349_Ser350insArg
NM_001173455.2:c.954_956dup NP_001166926.1:p.Arg318_Ser319insArg
NM_001173456.2:c.840_842dup NP_001166927.1:p.Arg280_Ser281insArg