Canonical Allele Identifier: CA873741028

Gene: PDHA1

Linked Data

• dbSNP Id: rs1369851451
• MyVariant Identifiers: chrX:g.19376123_19376130del (hg19) ; chrX:g.19358005_19358012del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358008_19358015del , CM000685.2:g.19358008_19358015del	GRCh38
NC_000023.10:g.19376126_19376133del , CM000685.1:g.19376126_19376133del	GRCh37
NC_000023.9:g.19286047_19286054del	NCBI36
NG_016781.1:g.19116_19123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+289_920+296del	ENSP00000348062.6:n.920+289_920+296del
ENST00000379805.4:c.*591+289_*591+296del	ENSP00000369133.3:n.*591+289_*591+296del
ENST00000417819.6:c.983+289_983+296del	ENSP00000404616.2:n.983+289_983+296del
ENST00000423505.6:c.1013+289_1013+296del	ENSP00000406473.2:n.1013+289_1013+296del
ENST00000481733.2:n.694+289_694+296del
ENST00000696704.1:c.*231+289_*231+296del	ENSP00000512823.1:n.*231+289_*231+296del
ENST00000696705.1:c.*354+289_*354+296del	ENSP00000512824.1:n.*354+289_*354+296del
ENST00000422285.7:c.899+289_899+296del MANE Select	ENSP00000394382.2:n.899+289_899+296del
ENST00000379804.1:c.56+289_56+296del	ENSP00000369132.1:n.56+289_56+296del
ENST00000379806.9:c.1013+289_1013+296del	ENSP00000369134.5:n.1013+289_1013+296del
ENST00000422285.6:c.899+289_899+296del	ENSP00000394382.2:n.899+289_899+296del
ENST00000478795.1:n.338+289_338+296del
ENST00000481733.1:n.327+289_327+296del
ENST00000540249.5:c.806+289_806+296del	ENSP00000440761.1:n.806+289_806+296del
ENST00000545074.5:c.920+289_920+296del	ENSP00000438550.1:n.920+289_920+296del
NM_000284.3:c.899+289_899+296del	NP_000275.1:n.899+289_899+296del
NM_001173454.1:c.1013+289_1013+296del	NP_001166925.1:n.1013+289_1013+296del
NM_001173455.1:c.920+289_920+296del	NP_001166926.1:n.920+289_920+296del
NM_001173456.1:c.806+289_806+296del	NP_001166927.1:n.806+289_806+296del
XM_011545531.1:c.1034+289_1034+296del	XP_011543833.1:n.1034+289_1034+296del
XM_011545532.1:c.941+289_941+296del	XP_011543834.1:n.941+289_941+296del
XM_017029574.2:c.920+289_920+296del	XP_016885063.1:n.920+289_920+296del
NM_000284.4:c.899+289_899+296del MANE Select	NP_000275.1:n.899+289_899+296del
NM_001173454.2:c.1013+289_1013+296del	NP_001166925.1:n.1013+289_1013+296del
NM_001173455.2:c.920+289_920+296del	NP_001166926.1:n.920+289_920+296del
NM_001173456.2:c.806+289_806+296del	NP_001166927.1:n.806+289_806+296del