Canonical Allele Identifier: CA2418225231

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358948_19358952delinsGAAGT , CM000685.2:g.19358948_19358952delinsGAAGT	GRCh38
NC_000023.10:g.19377066_19377070delinsGAAGT , CM000685.1:g.19377066_19377070delinsGAAGT	GRCh37
NC_000023.9:g.19286987_19286991delinsGAAGT	NCBI36
NG_016781.1:g.20056_20060delinsGAAGT
NG_021184.1:g.161310_161314delinsACTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.953_957delinsGAAGT	ENSP00000348062.6:p.Arg318=
ENST00000379805.4:c.*624_*628delinsGAAGT	ENSP00000369133.3:n.*624_*628delinsGAAGT
ENST00000417819.6:c.1016_1020delinsGAAGT	ENSP00000404616.2:p.Arg339=
ENST00000423505.6:c.1046_1050delinsGAAGT	ENSP00000406473.2:p.Arg349=
ENST00000481733.2:n.727_731delinsGAAGT
ENST00000696704.1:c.*264_*268delinsGAAGT	ENSP00000512823.1:n.*264_*268delinsGAAGT
ENST00000696705.1:c.*387_*391delinsGAAGT	ENSP00000512824.1:n.*387_*391delinsGAAGT
ENST00000422285.7:c.932_936delinsGAAGT MANE Select	ENSP00000394382.2:p.Arg311=
ENST00000379804.1:c.89_93delinsGAAGT	ENSP00000369132.1:p.Arg30=
ENST00000379806.9:c.1046_1050delinsGAAGT	ENSP00000369134.5:p.Arg349=
ENST00000422285.6:c.932_936delinsGAAGT	ENSP00000394382.2:p.Arg311=
ENST00000478795.1:n.371_375delinsGAAGT
ENST00000481733.1:n.360_364delinsGAAGT
ENST00000540249.5:c.839_843delinsGAAGT	ENSP00000440761.1:p.Arg280=
ENST00000545074.5:c.953_957delinsGAAGT	ENSP00000438550.1:p.Arg318=
NM_000284.3:c.932_936delinsGAAGT	NP_000275.1:p.Arg311=
NM_001173454.1:c.1046_1050delinsGAAGT	NP_001166925.1:p.Arg349=
NM_001173455.1:c.953_957delinsGAAGT	NP_001166926.1:p.Arg318=
NM_001173456.1:c.839_843delinsGAAGT	NP_001166927.1:p.Arg280=
XM_011545531.1:c.1067_1071delinsGAAGT	XP_011543833.1:p.Arg356=
XM_011545532.1:c.974_978delinsGAAGT	XP_011543834.1:p.Arg325=
XM_017029574.2:c.953_957delinsGAAGT	XP_016885063.1:p.Arg318=
NM_000284.4:c.932_936delinsGAAGT MANE Select	NP_000275.1:p.Arg311=
NM_001173454.2:c.1046_1050delinsGAAGT	NP_001166925.1:p.Arg349=
NM_001173455.2:c.953_957delinsGAAGT	NP_001166926.1:p.Arg318=
NM_001173456.2:c.839_843delinsGAAGT	NP_001166927.1:p.Arg280=