Canonical Allele Identifier: CA873740791
Gene: PDHA1 HGNC NCBI

Linked Data

dbSNP Id: rs1391115392

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357802_19357807del , CM000685.2:g.19357802_19357807del GRCh38
NC_000023.10:g.19375920_19375925del , CM000685.1:g.19375920_19375925del GRCh37
NC_000023.9:g.19285841_19285846del NCBI36
NG_016781.1:g.18910_18915del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.920+83_920+88del ENSP00000348062.6:n.920+83_920+88del
ENST00000379805.4:c.*591+83_*591+88del ENSP00000369133.3:n.*591+83_*591+88del
ENST00000417819.6:c.983+83_983+88del ENSP00000404616.2:n.983+83_983+88del
ENST00000423505.6:c.1013+83_1013+88del ENSP00000406473.2:n.1013+83_1013+88del
ENST00000481733.2:n.694+83_694+88del
ENST00000696704.1:c.*231+83_*231+88del ENSP00000512823.1:n.*231+83_*231+88del
ENST00000696705.1:c.*354+83_*354+88del ENSP00000512824.1:n.*354+83_*354+88del
ENST00000422285.7:c.899+83_899+88del MANE Select ENSP00000394382.2:n.899+83_899+88del
ENST00000379804.1:c.56+83_56+88del ENSP00000369132.1:n.56+83_56+88del
ENST00000379806.9:c.1013+83_1013+88del ENSP00000369134.5:n.1013+83_1013+88del
ENST00000422285.6:c.899+83_899+88del ENSP00000394382.2:n.899+83_899+88del
ENST00000478795.1:n.338+83_338+88del
ENST00000481733.1:n.327+83_327+88del
ENST00000540249.5:c.806+83_806+88del ENSP00000440761.1:n.806+83_806+88del
ENST00000545074.5:c.920+83_920+88del ENSP00000438550.1:n.920+83_920+88del
NM_000284.3:c.899+83_899+88del NP_000275.1:n.899+83_899+88del
NM_001173454.1:c.1013+83_1013+88del NP_001166925.1:n.1013+83_1013+88del
NM_001173455.1:c.920+83_920+88del NP_001166926.1:n.920+83_920+88del
NM_001173456.1:c.806+83_806+88del NP_001166927.1:n.806+83_806+88del
XM_011545531.1:c.1034+83_1034+88del XP_011543833.1:n.1034+83_1034+88del
XM_011545532.1:c.941+83_941+88del XP_011543834.1:n.941+83_941+88del
XM_017029574.2:c.920+83_920+88del XP_016885063.1:n.920+83_920+88del
NM_000284.4:c.899+83_899+88del MANE Select NP_000275.1:n.899+83_899+88del
NM_001173454.2:c.1013+83_1013+88del NP_001166925.1:n.1013+83_1013+88del
NM_001173455.2:c.920+83_920+88del NP_001166926.1:n.920+83_920+88del
NM_001173456.2:c.806+83_806+88del NP_001166927.1:n.806+83_806+88del