Canonical Allele Identifier: CA1139667331

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 986990
• ClinVar RCV Id: RCV001268185
• dbSNP Id: rs2063244869

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359505_19359512del , CM000685.2:g.19359505_19359512del	GRCh38
NC_000023.10:g.19377623_19377630del , CM000685.1:g.19377623_19377630del	GRCh37
NC_000023.9:g.19287544_19287551del	NCBI36
NG_016781.1:g.20613_20620del
NG_021184.1:g.160755_160762del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1046_1053del	ENSP00000348062.6:p.Val349GlyfsTer3
ENST00000379805.4:c.*717_*724del	ENSP00000369133.3:n.*717_*724del
ENST00000417819.6:c.1109_1116del	ENSP00000404616.2:p.Val370GlyfsTer3
ENST00000423505.6:c.1139_1146del	ENSP00000406473.2:p.Val380GlyfsTer3
ENST00000481733.2:n.820_827del
ENST00000696704.1:c.*357_*364del	ENSP00000512823.1:n.*357_*364del
ENST00000696705.1:c.*480_*487del	ENSP00000512824.1:n.*480_*487del
ENST00000422285.7:c.1025_1032del MANE Select	ENSP00000394382.2:p.Val342GlyfsTer3
ENST00000379804.1:c.182_189del	ENSP00000369132.1:p.Val61GlyfsTer3
ENST00000379806.9:c.1139_1146del	ENSP00000369134.5:p.Val380GlyfsTer3
ENST00000422285.6:c.1025_1032del	ENSP00000394382.2:p.Val342GlyfsTer3
ENST00000478795.1:n.464_471del
ENST00000540249.5:c.932_939del	ENSP00000440761.1:p.Val311GlyfsTer3
ENST00000545074.5:c.1046_1053del	ENSP00000438550.1:p.Val349GlyfsTer3
NM_000284.3:c.1025_1032del	NP_000275.1:p.Val342GlyfsTer3
NM_001173454.1:c.1139_1146del	NP_001166925.1:p.Val380GlyfsTer3
NM_001173455.1:c.1046_1053del	NP_001166926.1:p.Val349GlyfsTer3
NM_001173456.1:c.932_939del	NP_001166927.1:p.Val311GlyfsTer3
XM_011545531.1:c.1160_1167del	XP_011543833.1:p.Val387GlyfsTer3
XM_011545532.1:c.1067_1074del	XP_011543834.1:p.Val356GlyfsTer3
XM_017029574.2:c.1046_1053del	XP_016885063.1:p.Val349GlyfsTer3
NM_000284.4:c.1025_1032del MANE Select	NP_000275.1:p.Val342GlyfsTer3
NM_001173454.2:c.1139_1146del	NP_001166925.1:p.Val380GlyfsTer3
NM_001173455.2:c.1046_1053del	NP_001166926.1:p.Val349GlyfsTer3
NM_001173456.2:c.932_939del	NP_001166927.1:p.Val311GlyfsTer3