Canonical Allele Identifier: CA2695231668
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359520_19359528dup , CM000685.2:g.19359520_19359528dup GRCh38
NC_000023.10:g.19377638_19377646dup , CM000685.1:g.19377638_19377646dup GRCh37
NC_000023.9:g.19287559_19287567dup NCBI36
NG_016781.1:g.20628_20636dup
NG_021184.1:g.160736_160744dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.1061_1069dup ENSP00000348062.6:p.Ala356_Ala357insGluAspAla
ENST00000379805.4:c.*732_*740dup ENSP00000369133.3:n.*732_*740dup
ENST00000417819.6:c.1124_1132dup ENSP00000404616.2:p.Ala377_Ala378insGluAspAla
ENST00000423505.6:c.1154_1162dup ENSP00000406473.2:p.Ala387_Ala388insGluAspAla
ENST00000481733.2:n.835_843dup
ENST00000696704.1:c.*372_*380dup ENSP00000512823.1:n.*372_*380dup
ENST00000696705.1:c.*495_*503dup ENSP00000512824.1:n.*495_*503dup
ENST00000422285.7:c.1040_1048dup MANE Select ENSP00000394382.2:p.Ala349_Ala350insGluAspAla
ENST00000379804.1:c.197_205dup ENSP00000369132.1:p.Ala68_Ala69insGluAspAla
ENST00000379806.9:c.1154_1162dup ENSP00000369134.5:p.Ala387_Ala388insGluAspAla
ENST00000422285.6:c.1040_1048dup ENSP00000394382.2:p.Ala349_Ala350insGluAspAla
ENST00000478795.1:n.479_487dup
ENST00000540249.5:c.947_955dup ENSP00000440761.1:p.Ala318_Ala319insGluAspAla
ENST00000545074.5:c.1061_1069dup ENSP00000438550.1:p.Ala356_Ala357insGluAspAla
NM_000284.3:c.1040_1048dup NP_000275.1:p.Ala349_Ala350insGluAspAla
NM_001173454.1:c.1154_1162dup NP_001166925.1:p.Ala387_Ala388insGluAspAla
NM_001173455.1:c.1061_1069dup NP_001166926.1:p.Ala356_Ala357insGluAspAla
NM_001173456.1:c.947_955dup NP_001166927.1:p.Ala318_Ala319insGluAspAla
XM_011545531.1:c.1175_1183dup XP_011543833.1:p.Ala394_Ala395insGluAspAla
XM_011545532.1:c.1082_1090dup XP_011543834.1:p.Ala363_Ala364insGluAspAla
XM_017029574.2:c.1061_1069dup XP_016885063.1:p.Ala356_Ala357insGluAspAla
NM_000284.4:c.1040_1048dup MANE Select NP_000275.1:p.Ala349_Ala350insGluAspAla
NM_001173454.2:c.1154_1162dup NP_001166925.1:p.Ala387_Ala388insGluAspAla
NM_001173455.2:c.1061_1069dup NP_001166926.1:p.Ala356_Ala357insGluAspAla
NM_001173456.2:c.947_955dup NP_001166927.1:p.Ala318_Ala319insGluAspAla