Canonical Allele Identifier: CA2697552883
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2689673
ClinVar RCV Id: RCV003486191

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359522_19359533del , CM000685.2:g.19359522_19359533del GRCh38
NC_000023.10:g.19377640_19377651del , CM000685.1:g.19377640_19377651del GRCh37
NC_000023.9:g.19287561_19287572del NCBI36
NG_016781.1:g.20630_20641del
NG_021184.1:g.160731_160742del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.1063_1074del ENSP00000348062.6:p.Asp355_Gln358del
ENST00000379805.4:c.*734_*745del ENSP00000369133.3:n.*734_*745del
ENST00000417819.6:c.1126_1137del ENSP00000404616.2:p.Asp376_Gln379del
ENST00000423505.6:c.1156_1167del ENSP00000406473.2:p.Asp386_Gln389del
ENST00000481733.2:n.837_848del
ENST00000696704.1:c.*374_*385del ENSP00000512823.1:n.*374_*385del
ENST00000696705.1:c.*497_*508del ENSP00000512824.1:n.*497_*508del
ENST00000422285.7:c.1042_1053del MANE Select ENSP00000394382.2:p.Asp348_Gln351del
ENST00000379804.1:c.199_210del ENSP00000369132.1:p.Asp67_Gln70del
ENST00000379806.9:c.1156_1167del ENSP00000369134.5:p.Asp386_Gln389del
ENST00000422285.6:c.1042_1053del ENSP00000394382.2:p.Asp348_Gln351del
ENST00000478795.1:n.481_492del
ENST00000540249.5:c.949_960del ENSP00000440761.1:p.Asp317_Gln320del
ENST00000545074.5:c.1063_1074del ENSP00000438550.1:p.Asp355_Gln358del
NM_000284.3:c.1042_1053del NP_000275.1:p.Asp348_Gln351del
NM_001173454.1:c.1156_1167del NP_001166925.1:p.Asp386_Gln389del
NM_001173455.1:c.1063_1074del NP_001166926.1:p.Asp355_Gln358del
NM_001173456.1:c.949_960del NP_001166927.1:p.Asp317_Gln320del
XM_011545531.1:c.1177_1188del XP_011543833.1:p.Asp393_Gln396del
XM_011545532.1:c.1084_1095del XP_011543834.1:p.Asp362_Gln365del
XM_017029574.2:c.1063_1074del XP_016885063.1:p.Asp355_Gln358del
NM_000284.4:c.1042_1053del MANE Select NP_000275.1:p.Asp348_Gln351del
NM_001173454.2:c.1156_1167del NP_001166925.1:p.Asp386_Gln389del
NM_001173455.2:c.1063_1074del NP_001166926.1:p.Asp355_Gln358del
NM_001173456.2:c.949_960del NP_001166927.1:p.Asp317_Gln320del