Canonical Allele Identifier: CA2418225621
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2581073
ClinVar RCV Id: RCV003330307
dbSNP Id: rs2063248337

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359639_19359644dup , CM000685.2:g.19359639_19359644dup GRCh38
NC_000023.10:g.19377757_19377762dup , CM000685.1:g.19377757_19377762dup GRCh37
NC_000023.9:g.19287678_19287683dup NCBI36
NG_016781.1:g.20747_20752dup
NG_021184.1:g.160618_160623dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.1180_1185dup ENSP00000348062.6:p.Ser395_Val396insLysSe...
ENST00000379805.4:c.*851_*856dup ENSP00000369133.3:n.*851_*856dup
ENST00000417819.6:c.1243_1248dup ENSP00000404616.2:p.Ser416_Val417insLysSe...
ENST00000423505.6:c.1273_1278dup ENSP00000406473.2:p.Ser426_Val427insLysSe...
ENST00000481733.2:n.954_959dup
ENST00000696704.1:c.*491_*496dup ENSP00000512823.1:n.*491_*496dup
ENST00000696705.1:c.*614_*619dup ENSP00000512824.1:n.*614_*619dup
ENST00000422285.7:c.1159_1164dup MANE Select ENSP00000394382.2:p.Ser388_Val389insLysSe...
ENST00000379804.1:c.316_321dup ENSP00000369132.1:p.Ser107_Val108insLysSe...
ENST00000379806.9:c.1273_1278dup ENSP00000369134.5:p.Ser426_Val427insLysSe...
ENST00000422285.6:c.1159_1164dup ENSP00000394382.2:p.Ser388_Val389insLysSe...
ENST00000478795.1:n.598_603dup
ENST00000540249.5:c.1066_1071dup ENSP00000440761.1:p.Ser357_Val358insLysSe...
ENST00000545074.5:c.1180_1185dup ENSP00000438550.1:p.Ser395_Val396insLysSe...
NM_000284.3:c.1159_1164dup NP_000275.1:p.Ser388_Val389insLysSer
NM_001173454.1:c.1273_1278dup NP_001166925.1:p.Ser426_Val427insLysSer
NM_001173455.1:c.1180_1185dup NP_001166926.1:p.Ser395_Val396insLysSer
NM_001173456.1:c.1066_1071dup NP_001166927.1:p.Ser357_Val358insLysSer
XM_011545531.1:c.1294_1299dup XP_011543833.1:p.Ser433_Val434insLysSer
XM_011545532.1:c.1201_1206dup XP_011543834.1:p.Ser402_Val403insLysSer
XM_017029574.2:c.1180_1185dup XP_016885063.1:p.Ser395_Val396insLysSer
NM_000284.4:c.1159_1164dup MANE Select NP_000275.1:p.Ser388_Val389insLysSer
NM_001173454.2:c.1273_1278dup NP_001166925.1:p.Ser426_Val427insLysSer
NM_001173455.2:c.1180_1185dup NP_001166926.1:p.Ser395_Val396insLysSer
NM_001173456.2:c.1066_1071dup NP_001166927.1:p.Ser357_Val358insLysSer