Canonical Allele Identifier: CA2418225160
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358847_19358854delinsTTCATCAC , CM000685.2:g.19358847_19358854delinsTTCATCAC GRCh38
NC_000023.10:g.19376965_19376972delinsTTCATCAC , CM000685.1:g.19376965_19376972delinsTTCATCAC GRCh37
NC_000023.9:g.19286886_19286893delinsTTCATCAC NCBI36
NG_016781.1:g.19955_19962delinsTTCATCAC
NG_021184.1:g.161408_161415delinsGTGATGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.921-69_921-62delinsTTCATCAC ENSP00000348062.6:n.921-69_921-62delinsTT...
ENST00000379805.4:c.*592-69_*592-62delinsTTCATCAC ENSP00000369133.3:n.*592-69_*592-62delins...
ENST00000417819.6:c.984-69_984-62delinsTTCATCAC ENSP00000404616.2:n.984-69_984-62delinsTT...
ENST00000423505.6:c.1014-69_1014-62delinsTTCATCAC ENSP00000406473.2:n.1014-69_1014-62delins...
ENST00000481733.2:n.695-69_695-62delinsTTCATCAC
ENST00000696704.1:c.*232-69_*232-62delinsTTCATCAC ENSP00000512823.1:n.*232-69_*232-62delins...
ENST00000696705.1:c.*355-69_*355-62delinsTTCATCAC ENSP00000512824.1:n.*355-69_*355-62delins...
ENST00000422285.7:c.900-69_900-62delinsTTCATCAC MANE Select ENSP00000394382.2:n.900-69_900-62delinsTT...
ENST00000379804.1:c.57-69_57-62delinsTTCATCAC ENSP00000369132.1:n.57-69_57-62delinsTTCA...
ENST00000379806.9:c.1014-69_1014-62delinsTTCATCAC ENSP00000369134.5:n.1014-69_1014-62delins...
ENST00000422285.6:c.900-69_900-62delinsTTCATCAC ENSP00000394382.2:n.900-69_900-62delinsTT...
ENST00000478795.1:n.339-69_339-62delinsTTCATCAC
ENST00000481733.1:n.328-69_328-62delinsTTCATCAC
ENST00000540249.5:c.807-69_807-62delinsTTCATCAC ENSP00000440761.1:n.807-69_807-62delinsTT...
ENST00000545074.5:c.921-69_921-62delinsTTCATCAC ENSP00000438550.1:n.921-69_921-62delinsTT...
NM_000284.3:c.900-69_900-62delinsTTCATCAC NP_000275.1:n.900-69_900-62delinsTTCATCAC...
NM_001173454.1:c.1014-69_1014-62delinsTTCATCAC NP_001166925.1:n.1014-69_1014-62delinsTTC...
NM_001173455.1:c.921-69_921-62delinsTTCATCAC NP_001166926.1:n.921-69_921-62delinsTTCAT...
NM_001173456.1:c.807-69_807-62delinsTTCATCAC NP_001166927.1:n.807-69_807-62delinsTTCAT...
XM_011545531.1:c.1035-69_1035-62delinsTTCATCAC XP_011543833.1:n.1035-69_1035-62delinsTTC...
XM_011545532.1:c.942-69_942-62delinsTTCATCAC XP_011543834.1:n.942-69_942-62delinsTTCAT...
XM_017029574.2:c.921-69_921-62delinsTTCATCAC XP_016885063.1:n.921-69_921-62delinsTTCAT...
NM_000284.4:c.900-69_900-62delinsTTCATCAC MANE Select NP_000275.1:n.900-69_900-62delinsTTCATCAC...
NM_001173454.2:c.1014-69_1014-62delinsTTCATCAC NP_001166925.1:n.1014-69_1014-62delinsTTC...
NM_001173455.2:c.921-69_921-62delinsTTCATCAC NP_001166926.1:n.921-69_921-62delinsTTCAT...
NM_001173456.2:c.807-69_807-62delinsTTCATCAC NP_001166927.1:n.807-69_807-62delinsTTCAT...