Canonical Allele Identifier: CA2418225075
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358708_19358758delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA , CM000685.2:g.19358708_19358758delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA GRCh38
NC_000023.10:g.19376826_19376876delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA , CM000685.1:g.19376826_19376876delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA GRCh37
NC_000023.9:g.19286747_19286797delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA NCBI36
NG_016781.1:g.19816_19866delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA
NG_021184.1:g.161504_161554delinsTAGGCGTGGCAGAGTTGTTGTTATACTTTCAAAATACCAGAACGCAGCCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.921-208_921-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA ENSP00000348062.6:n.921-208_921-158delinsTAGGCTGCGTTCTGGTATTT...
ENST00000379805.4:c.*592-208_*592-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA ENSP00000369133.3:n.*592-208_*592-158delinsTAGGCTGCGTTCTGGTAT...
ENST00000417819.6:c.984-208_984-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA ENSP00000404616.2:n.984-208_984-158delinsTAGGCTGCGTTCTGGTATTT...
ENST00000423505.6:c.1014-208_1014-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA ENSP00000406473.2:n.1014-208_1014-158delinsTAGGCTGCGTTCTGGTAT...
ENST00000481733.2:n.695-208_695-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA
ENST00000696704.1:c.*232-208_*232-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA ENSP00000512823.1:n.*232-208_*232-158delinsTAGGCTGCGTTCTGGTAT...
ENST00000696705.1:c.*355-208_*355-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA ENSP00000512824.1:n.*355-208_*355-158delinsTAGGCTGCGTTCTGGTAT...
ENST00000422285.7:c.900-208_900-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA MANE Select ENSP00000394382.2:n.900-208_900-158delinsTAGGCTGCGTTCTGGTATTT...
ENST00000379804.1:c.57-208_57-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA ENSP00000369132.1:n.57-208_57-158delinsTAGGCTGCGTTCTGGTATTTTG...
ENST00000379806.9:c.1014-208_1014-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA ENSP00000369134.5:n.1014-208_1014-158delinsTAGGCTGCGTTCTGGTAT...
ENST00000422285.6:c.900-208_900-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA ENSP00000394382.2:n.900-208_900-158delinsTAGGCTGCGTTCTGGTATTT...
ENST00000478795.1:n.339-208_339-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA
ENST00000481733.1:n.328-208_328-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA
ENST00000540249.5:c.807-208_807-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA ENSP00000440761.1:n.807-208_807-158delinsTAGGCTGCGTTCTGGTATTT...
ENST00000545074.5:c.921-208_921-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA ENSP00000438550.1:n.921-208_921-158delinsTAGGCTGCGTTCTGGTATTT...
NM_000284.3:c.900-208_900-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA NP_000275.1:n.900-208_900-158delinsTAGGCTGCGTTCTGGTATTTTGAAAG...
NM_001173454.1:c.1014-208_1014-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA NP_001166925.1:n.1014-208_1014-158delinsTAGGCTGCGTTCTGGTATTTT...
NM_001173455.1:c.921-208_921-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA NP_001166926.1:n.921-208_921-158delinsTAGGCTGCGTTCTGGTATTTTGA...
NM_001173456.1:c.807-208_807-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA NP_001166927.1:n.807-208_807-158delinsTAGGCTGCGTTCTGGTATTTTGA...
XM_011545531.1:c.1035-208_1035-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA XP_011543833.1:n.1035-208_1035-158delinsTAGGCTGCGTTCTGGTATTTT...
XM_011545532.1:c.942-208_942-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA XP_011543834.1:n.942-208_942-158delinsTAGGCTGCGTTCTGGTATTTTGA...
XM_017029574.2:c.921-208_921-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA XP_016885063.1:n.921-208_921-158delinsTAGGCTGCGTTCTGGTATTTTGA...
NM_000284.4:c.900-208_900-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA MANE Select NP_000275.1:n.900-208_900-158delinsTAGGCTGCGTTCTGGTATTTTGAAAG...
NM_001173454.2:c.1014-208_1014-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA NP_001166925.1:n.1014-208_1014-158delinsTAGGCTGCGTTCTGGTATTTT...
NM_001173455.2:c.921-208_921-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA NP_001166926.1:n.921-208_921-158delinsTAGGCTGCGTTCTGGTATTTTGA...
NM_001173456.2:c.807-208_807-158delinsTAGGCTGCGTTCTGGTATTTTGAAAGTATAACAACAACTCTGCCACGCCTA NP_001166927.1:n.807-208_807-158delinsTAGGCTGCGTTCTGGTATTTTGA...