Canonical Allele Identifier: CA2499226556
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1220221
ClinVar RCV Id: RCV001590896
dbSNP Id: rs2147189414

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359642_19359654del , CM000685.2:g.19359642_19359654del GRCh38
NC_000023.10:g.19377760_19377772del , CM000685.1:g.19377760_19377772del GRCh37
NC_000023.9:g.19287681_19287693del NCBI36
NG_016781.1:g.20750_20762del
NG_021184.1:g.160613_160625del

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.1183_*1del ENSP00000348062.6:n.[c.1183_*1del;Ser395G...
ENST00000379805.4:c.*854_*866del ENSP00000369133.3:n.*854_*866del
ENST00000417819.6:c.1246_*1del ENSP00000404616.2:n.[c.1246_*1del;Ser416G...
ENST00000423505.6:c.1276_*1del ENSP00000406473.2:n.[c.1276_*1del;Ser426G...
ENST00000481733.2:n.957_969del
ENST00000696704.1:c.*494_*506del ENSP00000512823.1:n.*494_*506del
ENST00000696705.1:c.*617_*629del ENSP00000512824.1:n.*617_*629del
ENST00000422285.7:c.1162_*1del MANE Select ENSP00000394382.2:n.[c.1162_*1del;Ser388G...
ENST00000379804.1:c.319_*1del ENSP00000369132.1:n.[c.319_*1del;Ser107Gl...
ENST00000379806.9:c.1276_*1del ENSP00000369134.5:n.[c.1276_*1del;Ser426G...
ENST00000422285.6:c.1162_*1del ENSP00000394382.2:n.[c.1162_*1del;Ser388G...
ENST00000478795.1:n.601_613del
ENST00000540249.5:c.1069_*1del ENSP00000440761.1:n.[c.1069_*1del;Ser357G...
ENST00000545074.5:c.1183_*1del ENSP00000438550.1:n.[c.1183_*1del;Ser395G...
NM_000284.3:c.1162_*1del NP_000275.1:n.[c.1162_*1del;Ser388GlyfsTe...
NM_001173454.1:c.1276_*1del NP_001166925.1:n.[c.1276_*1del;Ser426Glyf...
NM_001173455.1:c.1183_*1del NP_001166926.1:n.[c.1183_*1del;Ser395Glyf...
NM_001173456.1:c.1069_*1del NP_001166927.1:n.[c.1069_*1del;Ser357Glyf...
XM_011545531.1:c.1297_*1del XP_011543833.1:n.[c.1297_*1del;Ser433Glyf...
XM_011545532.1:c.1204_*1del XP_011543834.1:n.[c.1204_*1del;Ser402Glyf...
XM_017029574.2:c.1183_*1del XP_016885063.1:n.[c.1183_*1del;Ser395Glyf...
NM_000284.4:c.1162_*1del MANE Select NP_000275.1:n.[c.1162_*1del;Ser388GlyfsTe...
NM_001173454.2:c.1276_*1del NP_001166925.1:n.[c.1276_*1del;Ser426Glyf...
NM_001173455.2:c.1183_*1del NP_001166926.1:n.[c.1183_*1del;Ser395Glyf...
NM_001173456.2:c.1069_*1del NP_001166927.1:n.[c.1069_*1del;Ser357Glyf...