Canonical Allele Identifier: CA121224
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359554_19359589dup , CM000685.2:g.19359554_19359589dup GRCh38
NC_000023.10:g.19377672_19377707dup , CM000685.1:g.19377672_19377707dup GRCh37
NC_000023.9:g.19287593_19287628dup NCBI36
NG_016781.1:g.20662_20697dup
NG_021184.1:g.160673_160708dup

Transcript Alleles

HGVS Amino-acid Change
NM_000284.4:c.1074_1109dup MANE Select NP_000275.1:p.Ser370_Ser371insProProLeuGluGluLeuGlyTyrHisIleT...
ENST00000422285.7:c.1074_1109dup MANE Select ENSP00000394382.2:p.Ser370_Ser371insProProLeuGluGluLeuGlyTyrH...
NM_000284.3:c.1074_1109dup NP_000275.1:p.Ser370_Ser371insProProLeuGluGluLeuGlyTyrHisIleT...
NM_001173454.1:c.1188_1223dup NP_001166925.1:p.Ser408_Ser409insProProLeuGluGluLeuGlyTyrHisI...
NM_001173454.2:c.1188_1223dup NP_001166925.1:p.Ser408_Ser409insProProLeuGluGluLeuGlyTyrHisI...
NM_001173455.1:c.1095_1130dup NP_001166926.1:p.Ser377_Ser378insProProLeuGluGluLeuGlyTyrHisI...
NM_001173455.2:c.1095_1130dup NP_001166926.1:p.Ser377_Ser378insProProLeuGluGluLeuGlyTyrHisI...
NM_001173456.1:c.981_1016dup NP_001166927.1:p.Ser339_Ser340insProProLeuGluGluLeuGlyTyrHisI...
NM_001173456.2:c.981_1016dup NP_001166927.1:p.Ser339_Ser340insProProLeuGluGluLeuGlyTyrHisI...
ENST00000355808.10:c.1095_1130dup ENSP00000348062.6:p.Ser377_Ser378insProProLeuGluGluLeuGlyTyrH...
ENST00000379804.1:c.231_266dup ENSP00000369132.1:p.Ser89_Ser90insProProLeuGluGluLeuGlyTyrHis...
ENST00000379805.4:c.*766_*801dup ENSP00000369133.3:n.*766_*801dup
ENST00000379806.9:c.1188_1223dup ENSP00000369134.5:p.Ser408_Ser409insProProLeuGluGluLeuGlyTyrH...
ENST00000417819.6:c.1158_1193dup ENSP00000404616.2:p.Ser398_Ser399insProProLeuGluGluLeuGlyTyrH...
ENST00000422285.6:c.1074_1109dup ENSP00000394382.2:p.Ser370_Ser371insProProLeuGluGluLeuGlyTyrH...
ENST00000423505.6:c.1188_1223dup ENSP00000406473.2:p.Ser408_Ser409insProProLeuGluGluLeuGlyTyrH...
ENST00000478795.1:n.513_548dup
ENST00000481733.2:n.869_904dup
ENST00000540249.5:c.981_1016dup ENSP00000440761.1:p.Ser339_Ser340insProProLeuGluGluLeuGlyTyrH...
ENST00000545074.5:c.1095_1130dup ENSP00000438550.1:p.Ser377_Ser378insProProLeuGluGluLeuGlyTyrH...
ENST00000696704.1:c.*406_*441dup ENSP00000512823.1:n.*406_*441dup
ENST00000696705.1:c.*529_*564dup ENSP00000512824.1:n.*529_*564dup
XM_011545531.1:c.1209_1244dup XP_011543833.1:p.Ser415_Ser416insProProLeuGluGluLeuGlyTyrHisI...
XM_011545532.1:c.1116_1151dup XP_011543834.1:p.Ser384_Ser385insProProLeuGluGluLeuGlyTyrHisI...
XM_017029574.2:c.1095_1130dup XP_016885063.1:p.Ser377_Ser378insProProLeuGluGluLeuGlyTyrHisI...