Canonical Allele Identifier: CA658684283

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 488571
• ClinVar RCV Id: RCV000578365
• dbSNP Id: rs1555935223
• MyVariant Identifiers: chrX:g.19377064_19377066del (hg19) ; chrX:g.19358946_19358948del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358949_19358951del , CM000685.2:g.19358949_19358951del	GRCh38
NC_000023.10:g.19377067_19377069del , CM000685.1:g.19377067_19377069del	GRCh37
NC_000023.9:g.19286988_19286990del	NCBI36
NG_016781.1:g.20057_20059del
NG_021184.1:g.161314_161316del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.954_956del	ENSP00000348062.6:p.Arg318del
ENST00000379805.4:c.*625_*627del	ENSP00000369133.3:n.*625_*627del
ENST00000417819.6:c.1017_1019del	ENSP00000404616.2:p.Arg339del
ENST00000423505.6:c.1047_1049del	ENSP00000406473.2:p.Arg349del
ENST00000481733.2:n.728_730del
ENST00000696704.1:c.*265_*267del	ENSP00000512823.1:n.*265_*267del
ENST00000696705.1:c.*388_*390del	ENSP00000512824.1:n.*388_*390del
ENST00000422285.7:c.933_935del MANE Select	ENSP00000394382.2:p.Arg311del
ENST00000379804.1:c.90_92del	ENSP00000369132.1:p.Arg30del
ENST00000379806.9:c.1047_1049del	ENSP00000369134.5:p.Arg349del
ENST00000422285.6:c.933_935del	ENSP00000394382.2:p.Arg311del
ENST00000478795.1:n.372_374del
ENST00000481733.1:n.361_363del
ENST00000540249.5:c.840_842del	ENSP00000440761.1:p.Arg280del
ENST00000545074.5:c.954_956del	ENSP00000438550.1:p.Arg318del
NM_000284.3:c.933_935del	NP_000275.1:p.Arg311del
NM_001173454.1:c.1047_1049del	NP_001166925.1:p.Arg349del
NM_001173455.1:c.954_956del	NP_001166926.1:p.Arg318del
NM_001173456.1:c.840_842del	NP_001166927.1:p.Arg280del
XM_011545531.1:c.1068_1070del	XP_011543833.1:p.Arg356del
XM_011545532.1:c.975_977del	XP_011543834.1:p.Arg325del
XM_017029574.2:c.954_956del	XP_016885063.1:p.Arg318del
NM_000284.4:c.933_935del MANE Select	NP_000275.1:p.Arg311del
NM_001173454.2:c.1047_1049del	NP_001166925.1:p.Arg349del
NM_001173455.2:c.954_956del	NP_001166926.1:p.Arg318del
NM_001173456.2:c.840_842del	NP_001166927.1:p.Arg280del