Canonical Allele Identifier: CA2697552884
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2687841
ClinVar RCV Id: RCV003488806

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359632_19359651del , CM000685.2:g.19359632_19359651del GRCh38
NC_000023.10:g.19377750_19377769del , CM000685.1:g.19377750_19377769del GRCh37
NC_000023.9:g.19287671_19287690del NCBI36
NG_016781.1:g.20740_20759del
NG_021184.1:g.160612_160631del

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.1173_1192del ENSP00000348062.6:p.Lys392ArgfsTer?
ENST00000379805.4:c.*844_*863del ENSP00000369133.3:n.*844_*863del
ENST00000417819.6:c.1236_1255del ENSP00000404616.2:p.Lys413ArgfsTer?
ENST00000423505.6:c.1266_1285del ENSP00000406473.2:p.Lys423ArgfsTer?
ENST00000481733.2:n.947_966del
ENST00000696704.1:c.*484_*503del ENSP00000512823.1:n.*484_*503del
ENST00000696705.1:c.*607_*626del ENSP00000512824.1:n.*607_*626del
ENST00000422285.7:c.1152_1171del MANE Select ENSP00000394382.2:p.Lys385ArgfsTer?
ENST00000379804.1:c.309_328del ENSP00000369132.1:p.Lys104ArgfsTer?
ENST00000379806.9:c.1266_1285del ENSP00000369134.5:p.Lys423ArgfsTer?
ENST00000422285.6:c.1152_1171del ENSP00000394382.2:p.Lys385ArgfsTer?
ENST00000478795.1:n.591_610del
ENST00000540249.5:c.1059_1078del ENSP00000440761.1:p.Lys354ArgfsTer?
ENST00000545074.5:c.1173_1192del ENSP00000438550.1:p.Lys392ArgfsTer?
NM_000284.3:c.1152_1171del NP_000275.1:p.Lys385ArgfsTer?
NM_001173454.1:c.1266_1285del NP_001166925.1:p.Lys423ArgfsTer?
NM_001173455.1:c.1173_1192del NP_001166926.1:p.Lys392ArgfsTer?
NM_001173456.1:c.1059_1078del NP_001166927.1:p.Lys354ArgfsTer?
XM_011545531.1:c.1287_1306del XP_011543833.1:p.Lys430ArgfsTer?
XM_011545532.1:c.1194_1213del XP_011543834.1:p.Lys399ArgfsTer?
XM_017029574.2:c.1173_1192del XP_016885063.1:p.Lys392ArgfsTer?
NM_000284.4:c.1152_1171del MANE Select NP_000275.1:p.Lys385ArgfsTer?
NM_001173454.2:c.1266_1285del NP_001166925.1:p.Lys423ArgfsTer?
NM_001173455.2:c.1173_1192del NP_001166926.1:p.Lys392ArgfsTer?
NM_001173456.2:c.1059_1078del NP_001166927.1:p.Lys354ArgfsTer?