Canonical Allele Identifier: CA121222
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10886
ClinVar RCV Id: RCV000011633
dbSNP Id: rs606231190

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357681_19357682insT , CM000685.2:g.19357681_19357682insT GRCh38
NC_000023.10:g.19375799_19375800insT , CM000685.1:g.19375799_19375800insT GRCh37
NC_000023.9:g.19285720_19285721insT NCBI36
NG_016781.1:g.18789_18790insT

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.882_883insT ENSP00000348062.6:p.Arg295SerfsTer9
ENST00000379805.4:c.*553_*554insT ENSP00000369133.3:n.*553_*554insT
ENST00000417819.6:c.945_946insT ENSP00000404616.2:p.Arg316SerfsTer9
ENST00000423505.6:c.975_976insT ENSP00000406473.2:p.Arg326SerfsTer9
ENST00000481733.2:n.656_657insT
ENST00000696704.1:c.*193_*194insT ENSP00000512823.1:n.*193_*194insT
ENST00000696705.1:c.*316_*317insT ENSP00000512824.1:n.*316_*317insT
ENST00000422285.7:c.861_862insT MANE Select ENSP00000394382.2:p.Arg288SerfsTer9
ENST00000379804.1:c.18_19insT ENSP00000369132.1:p.Arg7SerfsTer9
ENST00000379806.9:c.975_976insT ENSP00000369134.5:p.Arg326SerfsTer9
ENST00000422285.6:c.861_862insT ENSP00000394382.2:p.Arg288SerfsTer9
ENST00000478795.1:n.300_301insT
ENST00000481733.1:n.289_290insT
ENST00000540249.5:c.768_769insT ENSP00000440761.1:p.Arg257SerfsTer9
ENST00000545074.5:c.882_883insT ENSP00000438550.1:p.Arg295SerfsTer9
NM_000284.3:c.861_862insT NP_000275.1:p.Arg288SerfsTer9
NM_001173454.1:c.975_976insT NP_001166925.1:p.Arg326SerfsTer9
NM_001173455.1:c.882_883insT NP_001166926.1:p.Arg295SerfsTer9
NM_001173456.1:c.768_769insT NP_001166927.1:p.Arg257SerfsTer9
XM_011545531.1:c.996_997insT XP_011543833.1:p.Arg333SerfsTer9
XM_011545532.1:c.903_904insT XP_011543834.1:p.Arg302SerfsTer9
XM_017029574.2:c.882_883insT XP_016885063.1:p.Arg295SerfsTer9
NM_000284.4:c.861_862insT MANE Select NP_000275.1:p.Arg288SerfsTer9
NM_001173454.2:c.975_976insT NP_001166925.1:p.Arg326SerfsTer9
NM_001173455.2:c.882_883insT NP_001166926.1:p.Arg295SerfsTer9
NM_001173456.2:c.768_769insT NP_001166927.1:p.Arg257SerfsTer9