Canonical Allele Identifier: CA2418224575
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357589_19357597delinsTTGCCGGCC , CM000685.2:g.19357589_19357597delinsTTGCCGGCC GRCh38
NC_000023.10:g.19375707_19375715delinsTTGCCGGCC , CM000685.1:g.19375707_19375715delinsTTGCCGGCC GRCh37
NC_000023.9:g.19285628_19285636delinsTTGCCGGCC NCBI36
NG_016781.1:g.18697_18705delinsTTGCCGGCC

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.853-63_853-55delinsTTGCCGGCC ENSP00000348062.6:n.853-63_853-55delinsTT...
ENST00000379805.4:c.*524-63_*524-55delinsTTGCCGGCC ENSP00000369133.3:n.*524-63_*524-55delins...
ENST00000417819.6:c.916-63_916-55delinsTTGCCGGCC ENSP00000404616.2:n.916-63_916-55delinsTT...
ENST00000423505.6:c.946-63_946-55delinsTTGCCGGCC ENSP00000406473.2:n.946-63_946-55delinsTT...
ENST00000481733.2:n.627-63_627-55delinsTTGCCGGCC
ENST00000696704.1:c.*164-63_*164-55delinsTTGCCGGCC ENSP00000512823.1:n.*164-63_*164-55delins...
ENST00000696705.1:c.*287-63_*287-55delinsTTGCCGGCC ENSP00000512824.1:n.*287-63_*287-55delins...
ENST00000422285.7:c.832-63_832-55delinsTTGCCGGCC MANE Select ENSP00000394382.2:n.832-63_832-55delinsTT...
ENST00000379804.1:c.-12-63_-12-55delinsTTGCCGGCC ENSP00000369132.1:n.-12-63_-12-55delinsTT...
ENST00000379806.9:c.946-63_946-55delinsTTGCCGGCC ENSP00000369134.5:n.946-63_946-55delinsTT...
ENST00000422285.6:c.832-63_832-55delinsTTGCCGGCC ENSP00000394382.2:n.832-63_832-55delinsTT...
ENST00000478795.1:n.208_216delinsTTGCCGGCC
ENST00000481733.1:n.260-63_260-55delinsTTGCCGGCC
ENST00000540249.5:c.739-63_739-55delinsTTGCCGGCC ENSP00000440761.1:n.739-63_739-55delinsTT...
ENST00000545074.5:c.853-63_853-55delinsTTGCCGGCC ENSP00000438550.1:n.853-63_853-55delinsTT...
NM_000284.3:c.832-63_832-55delinsTTGCCGGCC NP_000275.1:n.832-63_832-55delinsTTGCCGGC...
NM_001173454.1:c.946-63_946-55delinsTTGCCGGCC NP_001166925.1:n.946-63_946-55delinsTTGCC...
NM_001173455.1:c.853-63_853-55delinsTTGCCGGCC NP_001166926.1:n.853-63_853-55delinsTTGCC...
NM_001173456.1:c.739-63_739-55delinsTTGCCGGCC NP_001166927.1:n.739-63_739-55delinsTTGCC...
XM_011545531.1:c.967-63_967-55delinsTTGCCGGCC XP_011543833.1:n.967-63_967-55delinsTTGCC...
XM_011545532.1:c.874-63_874-55delinsTTGCCGGCC XP_011543834.1:n.874-63_874-55delinsTTGCC...
XM_017029574.2:c.853-63_853-55delinsTTGCCGGCC XP_016885063.1:n.853-63_853-55delinsTTGCC...
NM_000284.4:c.832-63_832-55delinsTTGCCGGCC MANE Select NP_000275.1:n.832-63_832-55delinsTTGCCGGC...
NM_001173454.2:c.946-63_946-55delinsTTGCCGGCC NP_001166925.1:n.946-63_946-55delinsTTGCC...
NM_001173455.2:c.853-63_853-55delinsTTGCCGGCC NP_001166926.1:n.853-63_853-55delinsTTGCC...
NM_001173456.2:c.739-63_739-55delinsTTGCCGGCC NP_001166927.1:n.739-63_739-55delinsTTGCC...