Canonical Allele Identifier: CA2693250881
Gene: PDHA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357568_19357587del , CM000685.2:g.19357568_19357587del GRCh38
NC_000023.10:g.19375686_19375705del , CM000685.1:g.19375686_19375705del GRCh37
NC_000023.9:g.19285607_19285626del NCBI36
NG_016781.1:g.18676_18695del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.853-84_853-65del ENSP00000348062.6:n.853-84_853-65del
ENST00000379805.4:c.*524-84_*524-65del ENSP00000369133.3:n.*524-84_*524-65del
ENST00000417819.6:c.916-84_916-65del ENSP00000404616.2:n.916-84_916-65del
ENST00000423505.6:c.946-84_946-65del ENSP00000406473.2:n.946-84_946-65del
ENST00000481733.2:n.627-84_627-65del
ENST00000696704.1:c.*164-84_*164-65del ENSP00000512823.1:n.*164-84_*164-65del
ENST00000696705.1:c.*287-84_*287-65del ENSP00000512824.1:n.*287-84_*287-65del
ENST00000422285.7:c.832-84_832-65del MANE Select ENSP00000394382.2:n.832-84_832-65del
ENST00000379804.1:c.-12-84_-12-65del ENSP00000369132.1:n.-12-84_-12-65del
ENST00000379806.9:c.946-84_946-65del ENSP00000369134.5:n.946-84_946-65del
ENST00000422285.6:c.832-84_832-65del ENSP00000394382.2:n.832-84_832-65del
ENST00000478795.1:n.187_206del
ENST00000481733.1:n.260-84_260-65del
ENST00000540249.5:c.739-84_739-65del ENSP00000440761.1:n.739-84_739-65del
ENST00000545074.5:c.853-84_853-65del ENSP00000438550.1:n.853-84_853-65del
NM_000284.3:c.832-84_832-65del NP_000275.1:n.832-84_832-65del
NM_001173454.1:c.946-84_946-65del NP_001166925.1:n.946-84_946-65del
NM_001173455.1:c.853-84_853-65del NP_001166926.1:n.853-84_853-65del
NM_001173456.1:c.739-84_739-65del NP_001166927.1:n.739-84_739-65del
XM_011545531.1:c.967-84_967-65del XP_011543833.1:n.967-84_967-65del
XM_011545532.1:c.874-84_874-65del XP_011543834.1:n.874-84_874-65del
XM_017029574.2:c.853-84_853-65del XP_016885063.1:n.853-84_853-65del
NM_000284.4:c.832-84_832-65del MANE Select NP_000275.1:n.832-84_832-65del
NM_001173454.2:c.946-84_946-65del NP_001166925.1:n.946-84_946-65del
NM_001173455.2:c.853-84_853-65del NP_001166926.1:n.853-84_853-65del
NM_001173456.2:c.739-84_739-65del NP_001166927.1:n.739-84_739-65del