Canonical Allele Identifier: CA2693250799

Gene: PDHA1

Linked Data

• gnomAD v4: X-19357409-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357410_19357411del , CM000685.2:g.19357410_19357411del	GRCh38
NC_000023.10:g.19375528_19375529del , CM000685.1:g.19375528_19375529del	GRCh37
NC_000023.9:g.19285449_19285450del	NCBI36
NG_016781.1:g.18518_18519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-242_853-241del	ENSP00000348062.6:n.853-242_853-241del
ENST00000379805.4:c.*524-242_*524-241del	ENSP00000369133.3:n.*524-242_*524-241del
ENST00000417819.6:c.916-242_916-241del	ENSP00000404616.2:n.916-242_916-241del
ENST00000423505.6:c.946-242_946-241del	ENSP00000406473.2:n.946-242_946-241del
ENST00000481733.2:n.627-242_627-241del
ENST00000696704.1:c.*164-242_*164-241del	ENSP00000512823.1:n.*164-242_*164-241del
ENST00000696705.1:c.*287-242_*287-241del	ENSP00000512824.1:n.*287-242_*287-241del
ENST00000422285.7:c.832-242_832-241del MANE Select	ENSP00000394382.2:n.832-242_832-241del
ENST00000379804.1:c.-12-242_-12-241del	ENSP00000369132.1:n.-12-242_-12-241del
ENST00000379806.9:c.946-242_946-241del	ENSP00000369134.5:n.946-242_946-241del
ENST00000422285.6:c.832-242_832-241del	ENSP00000394382.2:n.832-242_832-241del
ENST00000478795.1:n.29_30del
ENST00000481733.1:n.260-242_260-241del
ENST00000540249.5:c.739-242_739-241del	ENSP00000440761.1:n.739-242_739-241del
ENST00000545074.5:c.853-242_853-241del	ENSP00000438550.1:n.853-242_853-241del
NM_000284.3:c.832-242_832-241del	NP_000275.1:n.832-242_832-241del
NM_001173454.1:c.946-242_946-241del	NP_001166925.1:n.946-242_946-241del
NM_001173455.1:c.853-242_853-241del	NP_001166926.1:n.853-242_853-241del
NM_001173456.1:c.739-242_739-241del	NP_001166927.1:n.739-242_739-241del
XM_011545531.1:c.967-242_967-241del	XP_011543833.1:n.967-242_967-241del
XM_011545532.1:c.874-242_874-241del	XP_011543834.1:n.874-242_874-241del
XM_017029574.2:c.853-242_853-241del	XP_016885063.1:n.853-242_853-241del
NM_000284.4:c.832-242_832-241del MANE Select	NP_000275.1:n.832-242_832-241del
NM_001173454.2:c.946-242_946-241del	NP_001166925.1:n.946-242_946-241del
NM_001173455.2:c.853-242_853-241del	NP_001166926.1:n.853-242_853-241del
NM_001173456.2:c.739-242_739-241del	NP_001166927.1:n.739-242_739-241del