Canonical Allele Identifier: CA2418224495
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357442_19357480delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC , CM000685.2:g.19357442_19357480delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC GRCh38
NC_000023.10:g.19375560_19375598delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC , CM000685.1:g.19375560_19375598delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC GRCh37
NC_000023.9:g.19285481_19285519delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC NCBI36
NG_016781.1:g.18550_18588delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.853-210_853-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC ENSP00000348062.6:n.853-210_853-172delinsTTAAAAATGAGAAAGATGAA...
ENST00000379805.4:c.*524-210_*524-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC ENSP00000369133.3:n.*524-210_*524-172delinsTTAAAAATGAGAAAGATG...
ENST00000417819.6:c.916-210_916-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC ENSP00000404616.2:n.916-210_916-172delinsTTAAAAATGAGAAAGATGAA...
ENST00000423505.6:c.946-210_946-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC ENSP00000406473.2:n.946-210_946-172delinsTTAAAAATGAGAAAGATGAA...
ENST00000481733.2:n.627-210_627-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC
ENST00000696704.1:c.*164-210_*164-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC ENSP00000512823.1:n.*164-210_*164-172delinsTTAAAAATGAGAAAGATG...
ENST00000696705.1:c.*287-210_*287-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC ENSP00000512824.1:n.*287-210_*287-172delinsTTAAAAATGAGAAAGATG...
ENST00000422285.7:c.832-210_832-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC MANE Select ENSP00000394382.2:n.832-210_832-172delinsTTAAAAATGAGAAAGATGAA...
ENST00000379804.1:c.-12-210_-12-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC ENSP00000369132.1:n.-12-210_-12-172delinsTTAAAAATGAGAAAGATGAA...
ENST00000379806.9:c.946-210_946-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC ENSP00000369134.5:n.946-210_946-172delinsTTAAAAATGAGAAAGATGAA...
ENST00000422285.6:c.832-210_832-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC ENSP00000394382.2:n.832-210_832-172delinsTTAAAAATGAGAAAGATGAA...
ENST00000478795.1:n.61_99delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC
ENST00000481733.1:n.260-210_260-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC
ENST00000540249.5:c.739-210_739-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC ENSP00000440761.1:n.739-210_739-172delinsTTAAAAATGAGAAAGATGAA...
ENST00000545074.5:c.853-210_853-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC ENSP00000438550.1:n.853-210_853-172delinsTTAAAAATGAGAAAGATGAA...
NM_000284.3:c.832-210_832-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC NP_000275.1:n.832-210_832-172delinsTTAAAAATGAGAAAGATGAAATATGC...
NM_001173454.1:c.946-210_946-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC NP_001166925.1:n.946-210_946-172delinsTTAAAAATGAGAAAGATGAAATA...
NM_001173455.1:c.853-210_853-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC NP_001166926.1:n.853-210_853-172delinsTTAAAAATGAGAAAGATGAAATA...
NM_001173456.1:c.739-210_739-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC NP_001166927.1:n.739-210_739-172delinsTTAAAAATGAGAAAGATGAAATA...
XM_011545531.1:c.967-210_967-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC XP_011543833.1:n.967-210_967-172delinsTTAAAAATGAGAAAGATGAAATA...
XM_011545532.1:c.874-210_874-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC XP_011543834.1:n.874-210_874-172delinsTTAAAAATGAGAAAGATGAAATA...
XM_017029574.2:c.853-210_853-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC XP_016885063.1:n.853-210_853-172delinsTTAAAAATGAGAAAGATGAAATA...
NM_000284.4:c.832-210_832-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC MANE Select NP_000275.1:n.832-210_832-172delinsTTAAAAATGAGAAAGATGAAATATGC...
NM_001173454.2:c.946-210_946-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC NP_001166925.1:n.946-210_946-172delinsTTAAAAATGAGAAAGATGAAATA...
NM_001173455.2:c.853-210_853-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC NP_001166926.1:n.853-210_853-172delinsTTAAAAATGAGAAAGATGAAATA...
NM_001173456.2:c.739-210_739-172delinsTTAAAAATGAGAAAGATGAAATATGCAATCAATACTTGC NP_001166927.1:n.739-210_739-172delinsTTAAAAATGAGAAAGATGAAATA...