Canonical Allele Identifier: CA2418224642
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357753_19357754delinsTG , CM000685.2:g.19357753_19357754delinsTG GRCh38
NC_000023.10:g.19375871_19375872delinsTG , CM000685.1:g.19375871_19375872delinsTG GRCh37
NC_000023.9:g.19285792_19285793delinsTG NCBI36
NG_016781.1:g.18861_18862delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.920+34_920+35delinsTG ENSP00000348062.6:n.920+34_920+35delinsTG
ENST00000379805.4:c.*591+34_*591+35delinsTG ENSP00000369133.3:n.*591+34_*591+35delinsTG
ENST00000417819.6:c.983+34_983+35delinsTG ENSP00000404616.2:n.983+34_983+35delinsTG
ENST00000423505.6:c.1013+34_1013+35delinsTG ENSP00000406473.2:n.1013+34_1013+35delinsTG
ENST00000481733.2:n.694+34_694+35delinsTG
ENST00000696704.1:c.*231+34_*231+35delinsTG ENSP00000512823.1:n.*231+34_*231+35delinsTG
ENST00000696705.1:c.*354+34_*354+35delinsTG ENSP00000512824.1:n.*354+34_*354+35delinsTG
ENST00000422285.7:c.899+34_899+35delinsTG MANE Select ENSP00000394382.2:n.899+34_899+35delinsTG
ENST00000379804.1:c.56+34_56+35delinsTG ENSP00000369132.1:n.56+34_56+35delinsTG
ENST00000379806.9:c.1013+34_1013+35delinsTG ENSP00000369134.5:n.1013+34_1013+35delinsTG
ENST00000422285.6:c.899+34_899+35delinsTG ENSP00000394382.2:n.899+34_899+35delinsTG
ENST00000478795.1:n.338+34_338+35delinsTG
ENST00000481733.1:n.327+34_327+35delinsTG
ENST00000540249.5:c.806+34_806+35delinsTG ENSP00000440761.1:n.806+34_806+35delinsTG
ENST00000545074.5:c.920+34_920+35delinsTG ENSP00000438550.1:n.920+34_920+35delinsTG
NM_000284.3:c.899+34_899+35delinsTG NP_000275.1:n.899+34_899+35delinsTG
NM_001173454.1:c.1013+34_1013+35delinsTG NP_001166925.1:n.1013+34_1013+35delinsTG
NM_001173455.1:c.920+34_920+35delinsTG NP_001166926.1:n.920+34_920+35delinsTG
NM_001173456.1:c.806+34_806+35delinsTG NP_001166927.1:n.806+34_806+35delinsTG
XM_011545531.1:c.1034+34_1034+35delinsTG XP_011543833.1:n.1034+34_1034+35delinsTG
XM_011545532.1:c.941+34_941+35delinsTG XP_011543834.1:n.941+34_941+35delinsTG
XM_017029574.2:c.920+34_920+35delinsTG XP_016885063.1:n.920+34_920+35delinsTG
NM_000284.4:c.899+34_899+35delinsTG MANE Select NP_000275.1:n.899+34_899+35delinsTG
NM_001173454.2:c.1013+34_1013+35delinsTG NP_001166925.1:n.1013+34_1013+35delinsTG
NM_001173455.2:c.920+34_920+35delinsTG NP_001166926.1:n.920+34_920+35delinsTG
NM_001173456.2:c.806+34_806+35delinsTG NP_001166927.1:n.806+34_806+35delinsTG