Canonical Allele Identifier: CA2418225624
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359643_19359652delinsCAGTCAGTTA , CM000685.2:g.19359643_19359652delinsCAGTCAGTTA GRCh38
NC_000023.10:g.19377761_19377770delinsCAGTCAGTTA , CM000685.1:g.19377761_19377770delinsCAGTCAGTTA GRCh37
NC_000023.9:g.19287682_19287691delinsCAGTCAGTTA NCBI36
NG_016781.1:g.20751_20760delinsCAGTCAGTTA
NG_021184.1:g.160610_160619delinsTAACTGACTG

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.1184_1193delinsCAGTCAGTTA ENSP00000348062.6:p.Ser395=
ENST00000379805.4:c.*855_*864delinsCAGTCAGTTA ENSP00000369133.3:n.*855_*864delinsCAGTCA...
ENST00000417819.6:c.1247_1256delinsCAGTCAGTTA ENSP00000404616.2:p.Ser416=
ENST00000423505.6:c.1277_1286delinsCAGTCAGTTA ENSP00000406473.2:p.Ser426=
ENST00000481733.2:n.958_967delinsCAGTCAGTTA
ENST00000696704.1:c.*495_*504delinsCAGTCAGTTA ENSP00000512823.1:n.*495_*504delinsCAGTCA...
ENST00000696705.1:c.*618_*627delinsCAGTCAGTTA ENSP00000512824.1:n.*618_*627delinsCAGTCA...
ENST00000422285.7:c.1163_1172delinsCAGTCAGTTA MANE Select ENSP00000394382.2:p.Ser388=
ENST00000379804.1:c.320_329delinsCAGTCAGTTA ENSP00000369132.1:p.Ser107=
ENST00000379806.9:c.1277_1286delinsCAGTCAGTTA ENSP00000369134.5:p.Ser426=
ENST00000422285.6:c.1163_1172delinsCAGTCAGTTA ENSP00000394382.2:p.Ser388=
ENST00000478795.1:n.602_611delinsCAGTCAGTTA
ENST00000540249.5:c.1070_1079delinsCAGTCAGTTA ENSP00000440761.1:p.Ser357=
ENST00000545074.5:c.1184_1193delinsCAGTCAGTTA ENSP00000438550.1:p.Ser395=
NM_000284.3:c.1163_1172delinsCAGTCAGTTA NP_000275.1:p.Ser388=
NM_001173454.1:c.1277_1286delinsCAGTCAGTTA NP_001166925.1:p.Ser426=
NM_001173455.1:c.1184_1193delinsCAGTCAGTTA NP_001166926.1:p.Ser395=
NM_001173456.1:c.1070_1079delinsCAGTCAGTTA NP_001166927.1:p.Ser357=
XM_011545531.1:c.1298_1307delinsCAGTCAGTTA XP_011543833.1:p.Ser433=
XM_011545532.1:c.1205_1214delinsCAGTCAGTTA XP_011543834.1:p.Ser402=
XM_017029574.2:c.1184_1193delinsCAGTCAGTTA XP_016885063.1:p.Ser395=
NM_000284.4:c.1163_1172delinsCAGTCAGTTA MANE Select NP_000275.1:p.Ser388=
NM_001173454.2:c.1277_1286delinsCAGTCAGTTA NP_001166925.1:p.Ser426=
NM_001173455.2:c.1184_1193delinsCAGTCAGTTA NP_001166926.1:p.Ser395=
NM_001173456.2:c.1070_1079delinsCAGTCAGTTA NP_001166927.1:p.Ser357=