Canonical Allele Identifier: CA327029317

Gene: PDHA1

Linked Data

• dbSNP Id: rs978030896
• gnomAD v2: X-19375614-ATCAG-A
• gnomAD v3: X-19357496-ATCAG-A
• gnomAD v4: X-19357496-ATCAG-A
• MyVariant Identifiers: chrX:g.19375615_19375618del (hg19) ; chrX:g.19357497_19357500del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357500_19357503del , CM000685.2:g.19357500_19357503del	GRCh38
NC_000023.10:g.19375618_19375621del , CM000685.1:g.19375618_19375621del	GRCh37
NC_000023.9:g.19285539_19285542del	NCBI36
NG_016781.1:g.18608_18611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-152_853-149del	ENSP00000348062.6:n.853-152_853-149del
ENST00000379805.4:c.*524-152_*524-149del	ENSP00000369133.3:n.*524-152_*524-149del
ENST00000417819.6:c.916-152_916-149del	ENSP00000404616.2:n.916-152_916-149del
ENST00000423505.6:c.946-152_946-149del	ENSP00000406473.2:n.946-152_946-149del
ENST00000481733.2:n.627-152_627-149del
ENST00000696704.1:c.*164-152_*164-149del	ENSP00000512823.1:n.*164-152_*164-149del
ENST00000696705.1:c.*287-152_*287-149del	ENSP00000512824.1:n.*287-152_*287-149del
ENST00000422285.7:c.832-152_832-149del MANE Select	ENSP00000394382.2:n.832-152_832-149del
ENST00000379804.1:c.-12-152_-12-149del	ENSP00000369132.1:n.-12-152_-12-149del
ENST00000379806.9:c.946-152_946-149del	ENSP00000369134.5:n.946-152_946-149del
ENST00000422285.6:c.832-152_832-149del	ENSP00000394382.2:n.832-152_832-149del
ENST00000478795.1:n.119_122del
ENST00000481733.1:n.260-152_260-149del
ENST00000540249.5:c.739-152_739-149del	ENSP00000440761.1:n.739-152_739-149del
ENST00000545074.5:c.853-152_853-149del	ENSP00000438550.1:n.853-152_853-149del
NM_000284.3:c.832-152_832-149del	NP_000275.1:n.832-152_832-149del
NM_001173454.1:c.946-152_946-149del	NP_001166925.1:n.946-152_946-149del
NM_001173455.1:c.853-152_853-149del	NP_001166926.1:n.853-152_853-149del
NM_001173456.1:c.739-152_739-149del	NP_001166927.1:n.739-152_739-149del
XM_011545531.1:c.967-152_967-149del	XP_011543833.1:n.967-152_967-149del
XM_011545532.1:c.874-152_874-149del	XP_011543834.1:n.874-152_874-149del
XM_017029574.2:c.853-152_853-149del	XP_016885063.1:n.853-152_853-149del
NM_000284.4:c.832-152_832-149del MANE Select	NP_000275.1:n.832-152_832-149del
NM_001173454.2:c.946-152_946-149del	NP_001166925.1:n.946-152_946-149del
NM_001173455.2:c.853-152_853-149del	NP_001166926.1:n.853-152_853-149del
NM_001173456.2:c.739-152_739-149del	NP_001166927.1:n.739-152_739-149del