Canonical Allele Identifier: CA2573055208

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1323430
• ClinVar RCV Id: RCV001784813
• dbSNP Id: rs2147189315

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359613_19359620del , CM000685.2:g.19359613_19359620del	GRCh38
NC_000023.10:g.19377731_19377738del , CM000685.1:g.19377731_19377738del	GRCh37
NC_000023.9:g.19287652_19287659del	NCBI36
NG_016781.1:g.20721_20728del
NG_021184.1:g.160643_160650del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1154_1161del	ENSP00000348062.6:p.Arg385GlnfsTer7
ENST00000379805.4:c.*825_*832del	ENSP00000369133.3:n.*825_*832del
ENST00000417819.6:c.1217_1224del	ENSP00000404616.2:p.Arg406GlnfsTer7
ENST00000423505.6:c.1247_1254del	ENSP00000406473.2:p.Arg416GlnfsTer7
ENST00000481733.2:n.928_935del
ENST00000696704.1:c.*465_*472del	ENSP00000512823.1:n.*465_*472del
ENST00000696705.1:c.*588_*595del	ENSP00000512824.1:n.*588_*595del
ENST00000422285.7:c.1133_1140del MANE Select	ENSP00000394382.2:p.Arg378GlnfsTer7
ENST00000379804.1:c.290_297del	ENSP00000369132.1:p.Arg97GlnfsTer7
ENST00000379806.9:c.1247_1254del	ENSP00000369134.5:p.Arg416GlnfsTer7
ENST00000422285.6:c.1133_1140del	ENSP00000394382.2:p.Arg378GlnfsTer7
ENST00000478795.1:n.572_579del
ENST00000540249.5:c.1040_1047del	ENSP00000440761.1:p.Arg347GlnfsTer7
ENST00000545074.5:c.1154_1161del	ENSP00000438550.1:p.Arg385GlnfsTer7
NM_000284.3:c.1133_1140del	NP_000275.1:p.Arg378GlnfsTer7
NM_001173454.1:c.1247_1254del	NP_001166925.1:p.Arg416GlnfsTer7
NM_001173455.1:c.1154_1161del	NP_001166926.1:p.Arg385GlnfsTer7
NM_001173456.1:c.1040_1047del	NP_001166927.1:p.Arg347GlnfsTer7
XM_011545531.1:c.1268_1275del	XP_011543833.1:p.Arg423GlnfsTer7
XM_011545532.1:c.1175_1182del	XP_011543834.1:p.Arg392GlnfsTer7
XM_017029574.2:c.1154_1161del	XP_016885063.1:p.Arg385GlnfsTer7
NM_000284.4:c.1133_1140del MANE Select	NP_000275.1:p.Arg378GlnfsTer7
NM_001173454.2:c.1247_1254del	NP_001166925.1:p.Arg416GlnfsTer7
NM_001173455.2:c.1154_1161del	NP_001166926.1:p.Arg385GlnfsTer7
NM_001173456.2:c.1040_1047del	NP_001166927.1:p.Arg347GlnfsTer7