Canonical Allele Identifier: CA2695231655
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358953_19358958dup , CM000685.2:g.19358953_19358958dup GRCh38
NC_000023.10:g.19377071_19377076dup , CM000685.1:g.19377071_19377076dup GRCh37
NC_000023.9:g.19286992_19286997dup NCBI36
NG_016781.1:g.20061_20066dup
NG_021184.1:g.161307_161312dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.958_963dup ENSP00000348062.6:p.Ser321_Asp322insLysSe...
ENST00000379805.4:c.*629_*634dup ENSP00000369133.3:n.*629_*634dup
ENST00000417819.6:c.1021_1026dup ENSP00000404616.2:p.Ser342_Asp343insLysSe...
ENST00000423505.6:c.1051_1056dup ENSP00000406473.2:p.Ser352_Asp353insLysSe...
ENST00000481733.2:n.732_737dup
ENST00000696704.1:c.*269_*274dup ENSP00000512823.1:n.*269_*274dup
ENST00000696705.1:c.*392_*397dup ENSP00000512824.1:n.*392_*397dup
ENST00000422285.7:c.937_942dup MANE Select ENSP00000394382.2:p.Ser314_Asp315insLysSe...
ENST00000379804.1:c.94_99dup ENSP00000369132.1:p.Ser33_Asp34insLysSer
ENST00000379806.9:c.1051_1056dup ENSP00000369134.5:p.Ser352_Asp353insLysSe...
ENST00000422285.6:c.937_942dup ENSP00000394382.2:p.Ser314_Asp315insLysSe...
ENST00000478795.1:n.376_381dup
ENST00000481733.1:n.365_370dup
ENST00000540249.5:c.844_849dup ENSP00000440761.1:p.Ser283_Asp284insLysSe...
ENST00000545074.5:c.958_963dup ENSP00000438550.1:p.Ser321_Asp322insLysSe...
NM_000284.3:c.937_942dup NP_000275.1:p.Ser314_Asp315insLysSer
NM_001173454.1:c.1051_1056dup NP_001166925.1:p.Ser352_Asp353insLysSer
NM_001173455.1:c.958_963dup NP_001166926.1:p.Ser321_Asp322insLysSer
NM_001173456.1:c.844_849dup NP_001166927.1:p.Ser283_Asp284insLysSer
XM_011545531.1:c.1072_1077dup XP_011543833.1:p.Ser359_Asp360insLysSer
XM_011545532.1:c.979_984dup XP_011543834.1:p.Ser328_Asp329insLysSer
XM_017029574.2:c.958_963dup XP_016885063.1:p.Ser321_Asp322insLysSer
NM_000284.4:c.937_942dup MANE Select NP_000275.1:p.Ser314_Asp315insLysSer
NM_001173454.2:c.1051_1056dup NP_001166925.1:p.Ser352_Asp353insLysSer
NM_001173455.2:c.958_963dup NP_001166926.1:p.Ser321_Asp322insLysSer
NM_001173456.2:c.844_849dup NP_001166927.1:p.Ser283_Asp284insLysSer